Genome-wide association analysis of insomnia using data from Partners Biobank.
Scientific reports | 2020-04-24 | PMID 32332799
Song Wenyu, Torous John, Kossowsky Joe and 3 more
Publication catalog
Biomedical publications with connected research
Browse 1,060,000 source-attributed publications. Article pages show available bibliographic context, indexed concepts and SPECTER2 related publications where supported by the source and graph. Missing metadata is not invented, and source retraction notices remain visible.
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Publications
Page 8125 of 10600
Novel Variations in Native Ethiopian Goat breeds PRNP Gene and Their Potential Effect on Prion Protein Stability.
Scientific reports | 2020-04-24 | PMID 32332800
Teferedegn Eden Yitna, Yaman Yalçın, Ün Cemal
Rotavirus A shedding and HBGA host genetic susceptibility in a birth community-cohort, Rio de Janeiro, Brazil, 2014-2018.
Scientific reports | 2020-04-24 | PMID 32332841
Cantelli Carina Pacheco, Velloso Alvaro Jorge, Assis Rosane Maria Santos de and 9 more
Modeling biological and genetic diversity in upper tract urothelial carcinoma with patient derived xenografts.
Nature communications | 2020-04-24 | PMID 32332851
Kim Kwanghee, Hu Wenhuo, Audenet François and 34 more
Analysis of the source of aggressiveness in gamecocks.
Scientific reports | 2020-04-24 | PMID 32332854
Komiyama Tomoyoshi, Yoshikawa Masanobu, Yokoyama Keiko and 1 more
Genotype-guided warfarin dosing may benefit patients with mechanical aortic valve replacements: randomized controlled study.
Scientific reports | 2020-04-24 | PMID 32332930
Lee Kyung Eun, Yee Jeong, Lee Gwan Yung and 4 more
Older age onset of systemic sclerosis - accelerated disease progression in all disease subsets.
Rheumatology (Oxford, England) | 2020-11-01 | PMID 32333004
Moinzadeh Pia, Kuhr Kathrin, Siegert Elise and 20 more
Immune landscape and a novel immunotherapy-related gene signature associated with clinical outcome in early-stage lung adenocarcinoma.
Journal of molecular medicine (Berlin, Germany) | 2020-06-01 | PMID 32333046
Bao Xuanwen, Shi Run, Zhao Tianyu and 1 more
IL-12 regulates the expansion, phenotype, and function of murine NK cells activated by IL-15 and IL-18.
Cancer immunology, immunotherapy : CII | 2020-09-01 | PMID 32333080
Oka Naoto, Markova Tzvetanka, Tsuzuki Kenzo and 8 more
Targeted deep sequencing helps distinguish independent primary tumors from intrapulmonary metastasis for lung cancer diagnosis.
Journal of cancer research and clinical oncology | 2020-09-01 | PMID 32333141
Liu Jixian, Mao Guangxian, Li Yingmei and 12 more
Alfalfa MsCBL4 enhances calcium metabolism but not sodium transport in transgenic tobacco under salt and saline-alkali stress.
Plant cell reports | 2020-08-01 | PMID 32333150
An Yimin, Yang Xiao-Xue, Zhang Lishuang and 5 more
Pre-transplant FLT3/ITD status predicts outcome in FLT3-mutated acute myeloid leukemia following allogeneic stem cell transplantation.
Annals of hematology | 2020-08-01 | PMID 32333156
Helbig Grzegorz, Koclęga Anna, Wieczorkiewicz-Kabut Agata and 6 more
Evolutionarily conserved plant genes responsive to root-knot nematodes identified by comparative genomics.
Molecular genetics and genomics : MGG | 2020-07-01 | PMID 32333171
Mota Ana Paula Zotta, Fernandez Diana, Arraes Fabricio B M and 10 more
The impact of freezing of gait on functional dependency in Parkinson's disease with regard to motor phenotype.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology | 2020-10-01 | PMID 32333181
Santos-García Diego, de Deus-Fonticoba Teres, Suárez Castro Ester and 23 more
Characterization of hereditary factor XI deficiency in Taiwanese patients: identification of three novel and two common mutations.
International journal of hematology | 2020-08-01 | PMID 32333264
Lin Hsuan-Yu, Lin Ching-Yeh, Hung Mei-Hua and 3 more
The role of AIP variants in pituitary adenomas and concomitant thyroid carcinomas in the Netherlands: a nationwide pathology registry (PALGA) study.
Endocrine | 2020-06-01 | PMID 32333269
Coopmans E C, Muhammad A, Daly A F and 7 more
The supplemental value of mammographic screening over breast MRI alone in BRCA2 mutation carriers.
Breast cancer research and treatment | 2020-06-01 | PMID 32333294
Obdeijn Inge-Marie, Mann Ritse M, Loo Claudette C E and 5 more
The effect of PNPLA3 polymorphism as gain in function mutation in the pathogenesis of non-alcoholic fatty liver disease.
Indian journal of gastroenterology : official journal of the Indian Society of Gastroenterology | 2020-02-01 | PMID 32333362
Delik Anıl, Akkız Hikmet, Dinçer Sadık
Ecological traits and the spatial structure of competitive coexistence among carnivores.
Ecology | 2020-08-01 | PMID 32333382
Monterroso Pedro, Díaz-Ruiz Francisco, Lukacs Paul M and 2 more
Expanding the clinical spectrum of Fowler syndrome: Three siblings with survival into adulthood and systematic review of the literature.
Clinical genetics | 2020-11-01 | PMID 32333401
De Luca Chiara, Crow Yanick J, Rodero Mathieu and 7 more
Somatic tumour testing establishes that bilateral DICER1-associated ovarian Sertoli-Leydig cell tumours represent independent primary neoplasms.
Histopathology | 2020-08-01 | PMID 32333409
McCluggage W Glenn, Chong Anne-Laure, de Kock Leanne and 1 more
A new approach to detect a set of SNP-SNP markers: Combining ARMS-PCR with SNaPshot technology.
Electrophoresis | 2020-07-01 | PMID 32333411
Zhang Ranran, Tan Yu, Jian Hui and 9 more
Pathogenic variants of DNAJC12 and evaluation of the encoded cochaperone as a genetic modifier of hyperphenylalaninemia.
Human mutation | 2020-07-01 | PMID 32333439
Gallego Diana, Leal Fátima, Gámez Alejandra and 19 more
The EAHAD blood coagulation factor VII variant database.
Human mutation | 2020-07-01 | PMID 32333443
Giansily-Blaizot Muriel, Rallapalli Pavithra M, Perkins Stephen J and 5 more
Bi-allelic mutations in HARS1 severely impair histidyl-tRNA synthetase expression and enzymatic activity causing a novel multisystem ataxic syndrome.
Human mutation | 2020-07-01 | PMID 32333447
Galatolo Daniele, Kuo Molly E, Mullen Patrick and 9 more
Central memory phenotype drives success of checkpoint inhibition in combination with CAR T cells.
Molecular carcinogenesis | 2020-07-01 | PMID 32333465
Toews Karin, Grunewald Laura, Schwiebert Silke and 12 more
PTPN22 gene polymorphism and susceptibility to rheumatoid arthritis (RA): Updated systematic review and meta-analysis.
The journal of gene medicine | 2020-09-01 | PMID 32333475
Abbasifard Mitra, Imani Danyal, Bagheri-Hosseinabadi Zahra
Association of CD33 rs3865444:C˃A polymorphism with a reduced risk of late-onset Alzheimer's disease in Slovaks is limited to subjects carrying the APOE ε4 allele.
International journal of immunogenetics | 2020-10-01 | PMID 32333488
Javor Juraj, Ďurmanová Vladimíra, Párnická Zuzana and 10 more
Association of GSDMC polymorphisms with lumbar disc herniation among Chinese Han population.
International journal of immunogenetics | 2020-12-01 | PMID 32333499
Wu Jiamin, Sun Yao, Xiong Zichao and 5 more
Integrative demographic study of the Iberian painted frog (Discoglossus galganoi): inter-annual variation in the effective to census population size ratio, with insights on mating system and breeding success.
Integrative zoology | 2020-11-01 | PMID 32333629
Olarte Óscar, SÁnchez-Montes Gregorio, MartÍnez-Solano Íñigo
Association between lipoprotein lipase gene polymorphisms and cardiovascular disease risk factors in European adolescents: The Healthy Lifestyle in Europe by Nutrition in Adolescence study.
Pediatric diabetes | 2020-08-01 | PMID 32333632
Salazar-Tortosa Diego F, Pascual-Gamarra Jose M, Labayen Idoia and 12 more
IDH1 and IDH2 mutations in lung adenocarcinomas: Evidences of subclonal evolution.
Cancer medicine | 2020-06-01 | PMID 32333643
Rodriguez Erika F, De Marchi Federico, Lokhandwala Parvez M and 6 more
Genes: IDH1, IDH2, KRAS, BRAF, EGFR
Predator-specific inducible morphological defenses of a water flea against two freshwater predators.
Journal of morphology | 2020-06-01 | PMID 32333693
Ritschar Sven, Rabus Max, Laforsch Christian
SUMOylation modulates the LIN28A-let-7 signaling pathway in response to cellular stresses in cancer cells.
Molecular oncology | 2020-09-01 | PMID 32333719
Dou Jinzhuo, Zhang Hailong, Chen Ran and 7 more
Genes: LIN28A, TUT4
NAF1 rs4691896 Is Significantly Associated with Coal Workers' Pneumoconiosis in a Chinese Han Population: A Case-Control Study.
Medical science monitor : international medical journal of experimental and clinical research | 2020-04-25 | PMID 32333749
Yuan Baojun, Wen Xiaoting, Li Liubing and 5 more
Lack of strong selection pressures maintains wide variation in floral traits in a food-deceptive orchid.
Annals of botany | 2020-08-13 | PMID 32333761
Jacquemyn Hans, Brys Rein
Transcriptomic Profiling Reveals Extraordinary Diversity of Venom Peptides in Unexplored Predatory Gastropods of the Genus Clavus.
Genome biology and evolution | 2020-05-01 | PMID 32333764
Lu Aiping, Watkins Maren, Li Qing and 7 more
Familial Aggregation and Heritability of Nonmedullary Thyroid Cancer in an Asian Population: A Nationwide Cohort Study.
The Journal of clinical endocrinology and metabolism | 2020-07-01 | PMID 32333767
Lin Huan-Tang, Liu Fu-Chao, Lin Shu-Fu and 3 more
Assessing the variation in manganese use efficiency traits in Scottish barley landrace Bere (Hordeum vulgare L.).
Annals of botany | 2020-07-24 | PMID 32333775
Cope Jonathan E, Russell Joanne, Norton Gareth J and 2 more
The Proline-Rich Family Protein EXTENSIN33 Is Required for Etiolated Arabidopsis thaliana Hypocotyl Growth.
Plant & cell physiology | 2020-06-01 | PMID 32333782
Zdanio Malgorzata, Boron Agnieszka Karolina, Balcerowicz Daria and 8 more
Columnar growth phenotype in apple results from gibberellin deficiency by ectopic expression of a dioxygenase gene.
Tree physiology | 2020-08-29 | PMID 32333787
Okada Kazuma, Wada Masato, Takebayashi Yumiko and 8 more
Behavioural effects of extracellular matrix protein Fras1 depletion in the mouse.
The European journal of neuroscience | 2021-06-01 | PMID 32333816
Kalpachidou Theodora, Makrygiannis Apostolos K, Pavlakis Evangelos and 3 more
Swine hepatitis E virus: Cross-species infection, pork safety and chronic infection.
Virus research | 2020-07-15 | PMID 32333941
Sooryanarain Harini, Meng Xiang-Jin
YY1-mediated PTEN dephosphorylation antagonizes IR-induced DNA repair contributing to tongue squamous cell carcinoma radiosensitization.
Molecular and cellular probes | 2020-10-01 | PMID 32334006
Zhao Lu, Li Ran, Qiu Jian-Zhong and 3 more
Riboflavin supplementation alters global and gene-specific DNA methylation in adults with the MTHFR 677 TT genotype.
Biochimie | 2020-06-01 | PMID 32334045
Amenyah Sophia D, McMahon Amy, Ward Mary and 8 more
Prevalence and multilocus genotyping of Giardia duodenalis in Tan sheep (Ovis aries) in northwestern China.
Parasitology international | 2020-08-01 | PMID 32334094
Peng Jun-Jie, Zou Yang, Li Zhi-Xin and 6 more
Molecular characterization of Cryptosporidium spp. and Giardia duodenalis in experimental rats in China.
Parasitology international | 2020-08-01 | PMID 32334095
Li Junqiang, Lang Ping, Huang Meigui and 7 more
Complexation with β-cyclodextrin enhances apoptosis-mediated cytotoxic effect of harman in chemoresistant BRAF-mutated melanoma cells.
European journal of pharmaceutical sciences : official journal of the European Federation for Pharmaceutical Sciences | 2020-07-01 | PMID 32334103
Ferraz Christiane Adrielly Alves, de Oliveira Júnior Raimundo Gonçalves, de Oliveira Ana Paula and 6 more
Association of GLP-1 receptor gene polymorphisms with sporadic Parkinson's disease in Chinese Han population.
Neuroscience letters | 2020-05-29 | PMID 32334107
Qiu Xiaohui, Huang Yanning, Cen Luan and 6 more
In vivo antitumoral effect of 4-nerolidylcatechol (4-NC) in NRAS-mutant human melanoma.
Food and chemical toxicology : an international journal published for the British Industrial Biological Research Association | 2020-07-01 | PMID 32334110
Alves-Fernandes Débora Kristina, Oliveira Érica Aparecida de, Hastreiter Araceli Aparecida and 6 more
Mutations in heat shock protein beta-1 (HSPB1) are associated with a range of clinical phenotypes related to different patterns of motor neuron dysfunction: A case series.
Journal of the neurological sciences | 2020-06-15 | PMID 32334137
Katz Matthew, Davis Mark, Garton Fleur C and 4 more
Blood eosinophil count group shifts and kinetics in severe eosinophilic asthma.
Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology | 2020-08-01 | PMID 32334141
Lugogo Njira L, Kreindler James L, Martin Ubaldo J and 3 more
Impact of breeding for coat and spotting patterns on the population structure and genetic diversity of an islander endangered dog breed.
Research in veterinary science | 2020-08-01 | PMID 32334156
Marín Navas Carmen, Navas González Francisco Javier, Castillo López Vanesa and 3 more
Increased diagnostic yield in complex dystonia through exome sequencing.
Parkinsonism & related disorders | 2020-05-01 | PMID 32334381
Wirth Thomas, Tranchant Christine, Drouot Nathalie and 21 more
Genes: CNTNAP1, CTNNB1, GNAO1, HIBCH, KCNB1, NUS1, RELN, SUCLG1
Association analysis of rs1695 and rs1138272 variations in GSTP1 gene and breast cancer susceptibility.
Asian Pacific journal of cancer prevention : APJCP | 2020-04-01 | PMID 32334487
Farmohammadi Amir, Arab-Yarmohammadi Vahid, Ramzanpour Ramin
Effect of number of annual rings and tree ages on genomic predictive ability for solid wood properties of Norway spruce.
BMC genomics | 2020-04-25 | PMID 32334511
Zhou Linghua, Chen Zhiqiang, Olsson Lars and 5 more
Prevalence of molecular markers associated with drug resistance of Plasmodium vivax isolates in Western Yunnan Province, China.
BMC infectious diseases | 2020-04-25 | PMID 32334523
Wang Xiaoxiao, Ruan Wei, Zhou Shuisen and 3 more
Existence of hepatitis B virus surface protein mutations and other variants: demand for hepatitis B infection control in Cambodia.
BMC infectious diseases | 2020-04-25 | PMID 32334529
Ko Ko, Takahashi Kazuaki, Nagashima Shintaro and 9 more
Transcriptomic profiling and discovery of key genes involved in adventitious root formation from green cuttings of highbush blueberry (Vaccinium corymbosum L.).
BMC plant biology | 2020-04-25 | PMID 32334538
An Haishan, Zhang Jiaying, Xu Fangjie and 2 more
Synergistic activation of NF-κB by TNFAIP3 (A20) reduction and UBE2L3 (UBCH7) augment that synergistically elevate lupus risk.
Arthritis research & therapy | 2020-04-25 | PMID 32334614
Kim Taehyeung, Bae Sang-Cheol, Kang Changwon
Low occurrence of extended-spectrum cephalosporinase producing Enterobacteriaceae and no detection of methicillin-resistant coagulase-positive staphylococci in healthy dogs in Sweden.
Acta veterinaria Scandinavica | 2020-04-25 | PMID 32334616
Börjesson Stefan, Gunnarsson Lotta, Landén Annica and 1 more
Inattention and hyperactive/impulsive component scores do not differentiate between autism spectrum disorder and attention-deficit/hyperactivity disorder in a clinical sample.
Molecular autism | 2020-04-25 | PMID 32334619
Krakowski Aneta D, Cost Katherine Tombeau, Anagnostou Evdokia and 6 more
HIV-1 integrase resistance associated mutations and the use of dolutegravir in Sub-Saharan Africa: a systematic review and meta-analysis protocol.
Systematic reviews | 2020-04-25 | PMID 32334643
Semengue Ezechiel Ngoufack Jagni, Santoro Maria Mercedes, Ndze Valantine Ngum and 10 more
Molecular AND logic gate for multiple single-nucleotide mutations detection based on CRISPR/Cas9n system-trigged signal amplification.
Analytica chimica acta | 2020-05-22 | PMID 32334681
Chang Weidan, Liu Weipeng, Shen Haoran and 3 more
Nuclear localization of ING3 is required to suppress melanoma cell migration, invasion and angiogenesis.
Biochemical and biophysical research communications | 2020-06-25 | PMID 32334834
Zhou Ruiyao, Rotte Anand, Li Gang and 3 more
Palatopharyngoplasty and Palatal Anatomy and Phenotypes for Treatment of Sleep Apnea in the Twenty-first Century.
Otolaryngologic clinics of North America | 2020-06-01 | PMID 32334865
Puccia Ryan, Woodson Beverly Tucker
Heritability and Genetics Contribution to Tinnitus.
Otolaryngologic clinics of North America | 2020-08-01 | PMID 32334875
Lopez-Escamez Jose A, Amanat Sana
Alcohol, Carbohydrate, and Calcium Intakes and Smoking Interactions with APOA5 rs662799 and rs2266788 were Associated with Elevated Plasma Triglyceride Concentrations in a Cross-Sectional Study of Korean Adults.
Journal of the Academy of Nutrition and Dietetics | 2020-08-01 | PMID 32335043
Park Sunmin, Kang Suna
The three novel complete aciniform spidroin variants from Araneus ventricosus reveal diversity of gene sequences within specific spidroin type.
International journal of biological macromolecules | 2020-08-15 | PMID 32335120
Wen Rui, Wang Kangkang, Meng Qing
PCC0208023, a potent SHP2 allosteric inhibitor, imparts an antitumor effect against KRAS mutant colorectal cancer.
Toxicology and applied pharmacology | 2020-07-01 | PMID 32335126
Chen Xiao, Zou Fangxia, Hu Zhengping and 6 more
The ADAMTS9 gene is associated with mandibular retrusion in a Chinese population.
Gene | 2020-07-30 | PMID 32335142
Cai Ying, Ni Zhenyu, Chen Weiting and 1 more
Albumin-conjugated drug is irresistible by single gene mutation of endocytic system: Verification by genome-wide CRISPR-Cas9 loss-of-function screens.
Journal of controlled release : official journal of the Controlled Release Society | 2020-07-10 | PMID 32335155
Yuan Fang, Sun Mengnan, Liu Huiqin and 1 more
The global prevalence of hepatitis D virus infection: Systematic review and meta-analysis.
Journal of hepatology | 2020-09-01 | PMID 32335166
Stockdale Alexander J, Kreuels Benno, Henrion Marc Y R and 5 more
USP8 protects against lipopolysaccharide-induced cognitive and motor deficits by modulating microglia phenotypes through TLR4/MyD88/NF-κB signaling pathway in mice.
Brain, behavior, and immunity | 2020-08-01 | PMID 32335193
Zhao JiaYi, Bi Wei, Zhang JiaWei and 5 more
The association between TLR3 rs3775290 polymorphism and sporadic Parkinson's disease in Chinese Han population.
Neuroscience letters | 2020-05-29 | PMID 32335220
Wang Jing, Liu Yumei, Liu Yang and 2 more
Association between the -2548G/A polymorphism of the leptin gene and antipsychotic-induced weight gain: Analysis of the CATIE sample and meta-analysis.
Progress in neuro-psychopharmacology & biological psychiatry | 2020-08-30 | PMID 32335267
Yoshida Kazunari, Maciukiewicz Malgorzata, Zai Clement C and 7 more
Immunophenotyping of A20 haploinsufficiency by multicolor flow cytometry.
Clinical immunology (Orlando, Fla.) | 2020-07-01 | PMID 32335289
Kadowaki Tomonori, Ohnishi Hidenori, Kawamoto Norio and 16 more
BRAF mutation and age in differentiated thyroid cancer risk stratification: Two sides of the same coin.
Oral oncology | 2020-07-01 | PMID 32335325
Subash Anand, Sinha Piyush, Singh Abhijeet
Emerging genetic diversity among clinical isolates of SARS-CoV-2: Lessons for today.
Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseases | 2020-10-01 | PMID 32335334
Sheikh Javaid Ahmad, Singh Jasdeep, Singh Hina and 7 more
Generation of induced pluripotent stem cell line (CSUXHi002-A) from a patient with spinocerebellar ataxia type 1.
Stem cell research | 2020-05-01 | PMID 32335388
He Lang, Zhao Huifang, Li Shuai and 10 more
Generation of iPSC line (USTCi001-A) from human skin fibroblasts of a patient with epilepsy.
Stem cell research | 2020-05-01 | PMID 32335389
Zhao Huifang, Li Shuai, He Lang and 8 more
Establishment of induced pluripotent stem cell line CSUASOi004-A by reprogramming peripheral blood mononuclear cells of a PRPF6-related dominant retinitis pigmentosa patient.
Stem cell research | 2020-05-01 | PMID 32335390
Zhou Yalan, Jing Yutong, Mao Shengru and 7 more
Single median maxillary central incisor syndrome and variant in SMO gene associated with SHH pathway.
International journal of pediatric otorhinolaryngology | 2020-07-01 | PMID 32335464
Zatoński Tomasz, Pazdro-Zastawny Katarzyna, Morawska-Kochman Monika and 8 more
Diagnosis of Achondroplasia at Birth: A Case Report.
JNMA; journal of the Nepal Medical Association | 2020-02-01 | PMID 32335626
Bhusal Suzit, Gautam Uttara, Phuyal Rajan and 3 more
Directed mutation of β-glucanases from probiotics to enhance enzymatic activity, thermal and pH stability.
Archives of microbiology | 2020-09-01 | PMID 32335717
Sun Zhan-Bin, Xu Jia-Liang, Lu Xin and 3 more
Estrogen receptor beta (ESR2) gene polymorphism and susceptibility to dementia.
Acta neurologica Belgica | 2021-10-01 | PMID 32335869
Ulhaq Zulvikar Syambani, Garcia Cristian Peinado
Adult-onset congenital central hypoventilation syndrome due to PHOX2B mutation.
Acta neurologica Belgica | 2021-02-01 | PMID 32335870
Meylemans Antoon, Depuydt Pieter, De Baere Elfride and 4 more
[Pathological variant of FBN2 gene identified in a pedigree affected with congenital contracture arachnodactyly].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2020-05-10 | PMID 32335871
Wang Jieqiong, Xia Yanjie, Wang Yanan and 2 more
[Identification of novel compound heterozygous variants in a pedigree affected with hereditary coagulation factor XI deficiency].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2020-05-10 | PMID 32335872
Xia Hong, Li Xiaolong, Zhu Liqing and 5 more
[Identification of a novel variant of F5 gene in a consanguineous pedigree affected with inherited coagulation factor V deficiency].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2020-05-10 | PMID 32335873
Liu Mohan, Yang Yuan, Liu Yunqiang
[Genetic testing and prenatal diagnosis for two families affected with Joubert syndrome].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2020-05-10 | PMID 32335874
Bai Zhouxian, Hu Shuang, Liu Ning and 2 more
[Phenotype-genotype analysis and detection of gene variant in six families with osteogenesis imperfecta].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2020-05-10 | PMID 32335875
Hou Rui, Li Chuang, Liu Caixia and 4 more
[Analysis of a case with gonadal mosaicism for COL1A2 variant].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2020-05-10 | PMID 32335877
Zhu Haiyan, Chen Yuanyuan, Wang Lili and 2 more
[Newborn screening and variant analysis for methionine adenosyltransferase I/III deficiency].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2020-05-10 | PMID 32335878
Lin Chunmei, Zheng Quanzhi, Jiang Mengyi and 1 more
[Identification of a novel missense NIPBL variant in a juvenile with severe type of Cornelia de Lange syndrome].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2020-05-10 | PMID 32335880
Tang Wenting, Wu Ruohao, Meng Zhe and 3 more
[Analysis of a case with Mowat-Wilson syndrome caused by ZEB2 gene variant].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2020-05-10 | PMID 32335881
Ma Jian, Liu Yong, Zhang Kaihui and 5 more
[Analysis of a child with megalencephalic leukoencephalopathy with subcortical cyst type 2B caused by HEPACAM variant].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2020-05-10 | PMID 32335882
Xu Min, Jin Bo, Guo Hu
[Clinical and genetic analysis of a patient with slow-channel congenital myasthenic syndrome].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2020-05-10 | PMID 32335884
Liu Yong, Ye Shuxin, Zhang Haiyan and 5 more
[Ultrasonographic manifestation and genetic analysis of a fetus with nephronophthisis type 2].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2020-05-10 | PMID 32335886
Wu Qinghua, Yang Saisai, Wang Can and 4 more
[Identification of a de novo MAP2K1 gene variant in an affected patient with Cardio-facio-cutaneous syndrome].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2020-05-10 | PMID 32335888
Wang Qingming, Chen Pengliang, Peng Qian and 5 more