Genotyping and Drug Resistance Profile of Clinical Isolates of Candida albicans from Vulvovaginal Candidiasis in the Eastern China.
Mycopathologia | 2022-06-01 | PMID 35072854
Hong Nan, Lei Yan, Chen Huan and 10 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 8819 of 10600
Economic values for production, fertility and mastitis traits for temperate dairy cattle breeds in tropical Sri Lanka.
Journal of animal breeding and genetics = Zeitschrift fur Tierzuchtung und Zuchtungsbiologie | 2022-05-01 | PMID 35072970
Samaraweera Amali Malshani, van der Werf Julius H J, Boerner Vinzent and 1 more
White matter microstructure alterations in frontotemporal dementia: Phenotype-associated signatures and single-subject interpretation.
Brain and behavior | 2022-02-01 | PMID 35072974
McKenna Mary Clare, Tahedl Marlene, Murad Aizuri and 4 more
Discovery of Novel Pyridine-Dimethyl-Phenyl-DAPY Hybrids by Molecular Fusing of Methyl-Pyrimidine-DAPYs and Difluoro-Pyridinyl-DAPYs: Improving the Druggability toward High Inhibitory Activity, Solubility, Safety, and PK.
Journal of medicinal chemistry | 2022-02-10 | PMID 35073089
Ding Li, Pannecouque Christophe, De Clercq Erik and 2 more
Combination of Trastuzumab, Pertuzumab, and Docetaxel in Patients With Advanced Non-Small-Cell Lung Cancer Harboring HER2 Mutations: Results From the IFCT-1703 R2D2 Trial.
Journal of clinical oncology : official journal of the American Society of Clinical Oncology | 2022-03-01 | PMID 35073148
Mazieres Julien, Lafitte Claire, Ricordel Charles and 16 more
Uncovering Molecular Mechanisms of Drug Resistance via Network-Constrained Common Structure Identification.
Journal of computational biology : a journal of computational molecular cell biology | 2022-03-01 | PMID 35073162
Park Heewon, Yamaguchi Rui, Imoto Seiya and 1 more
Impact of miRNA-binding site polymorphisms in STAT3 gene on occurrence and clinical characteristics of systemic lupus erythematosus.
Lupus | 2022-03-01 | PMID 35073195
Salehi Amirhossein, Nasrollahzadeh Sabet Mehrdad, Esmaeilzadeh Emran and 3 more
Genetic diversity of local and introduced cassava germplasm in Burundi using DArTseq molecular analyses.
PloS one | 2000-01-01 | PMID 35073332
Pierre Niyonzima, Wamalwa Lydia Nanjala, Muiru William Maina and 5 more
Mutually exclusive mutation profiles define functionally related genes in muscle invasive bladder cancer.
PloS one | 2000-01-01 | PMID 35073341
Sangster Ami G, Gooding Robert J, Garven Andrew and 3 more
Predicting spike protein NTD mutations of SARS-CoV-2 causing immune evasion by molecular dynamics simulations.
Physical chemistry chemical physics : PCCP | 2022-02-02 | PMID 35073390
Zhou Liping, Wu Leyun, Peng Cheng and 5 more
Direct MYD88L265P gene detection for diffuse large B-cell lymphoma (DLBCL) via a miniaturised CRISPR/dCas9-based sensing chip.
Lab on a chip | 2022-02-15 | PMID 35073397
Sun Weihan, Guo Wei, Liu Zhiyi and 9 more
Physiological levels of 25-hydroxyvitamin D3 induce a suppressive CD4+ T cell phenotype not reflected in the epigenetic landscape.
Scandinavian journal of immunology | 2022-05-01 | PMID 35073416
Matos Carina, Renner Kathrin, Peuker Alice and 12 more
Evolution of static allometry and constraint on evolutionary allometry in a fossil stickleback.
Journal of evolutionary biology | 2022-03-01 | PMID 35073436
Voje Kjetil L, Bell Michael A, Stuart Yoel E
Impact of CYBA genotypes on severity and progression of multiple sclerosis.
European journal of neurology | 2022-05-01 | PMID 35073438
Törnell Andreas, Kiffin Roberta, Haghighi Sara and 4 more
Impact of the evolution in RAS mutation analysis in Australian patients with metastatic colorectal cancer.
Asia-Pacific journal of clinical oncology | 2022-10-01 | PMID 35073441
Chong Chia Yuen, Jalali Azim, Wong Hui Li and 19 more
Personalized HLA typing leads to the discovery of novel HLA alleles and tumor-specific HLA variants.
HLA | 2022-04-01 | PMID 35073457
Anzar Irantzu, Sverchkova Angelina, Samarakoon Pubudu and 4 more
The novel allele HLA-DQA1*05:05:10 was detected in a Nigerian who also lacks the DRB5 gene in the DRB1*16 haplotype.
HLA | 2022-06-01 | PMID 35073458
Bradshaw Robert, Dunn Paul
Acoustic Array Biochip Combined with Allele-Specific PCR for Multiple Cancer Mutation Analysis in Tissue and Liquid Biopsy.
ACS sensors | 2022-02-25 | PMID 35073481
Naoumi Nikoletta, Michaelidou Kleita, Papadakis George and 7 more
The usefulness of maternally inherited genetic markers for phylogeographic studies in village chicken.
Animal biotechnology | 2023-11-01 | PMID 35073494
Al-Jumaili Ahmed S, Hanotte Olivier
TP53 mutation defines a unique subgroup within complex karyotype de novo and therapy-related MDS/AML.
Blood advances | 2022-05-10 | PMID 35073573
Weinberg Olga K, Siddon Alexa, Madanat Yazan F and 7 more
Mutations Accounting for Congenital Fibrinogen Disorders: An Update.
Seminars in thrombosis and hemostasis | 2022-11-01 | PMID 35073585
Richard Maxime, Celeny David, Neerman-Arbez Marguerite
Successful use of cinacalcet monotherapy in the management of siblings with homozygous calcium-sensing receptor mutation.
Journal of pediatric endocrinology & metabolism : JPEM | 2022-04-26 | PMID 35073615
Wade Laura, Aindow Anita, Isherwood Lorraine and 2 more
Genotyping of noroviruses from patients of the Pilsen University Hospital in the Czech Republic, 2017-2020.
Epidemiologie, mikrobiologie, imunologie : casopis Spolecnosti pro epidemiologii a mikrobiologii Ceske lekarske spolecnosti J.E. Purkyne | 2021-01-01 | PMID 35073701
Pazdiora P, Vašíčková P, Krzyžánková M
Non-additive QTL mapping of lactation traits in 124,000 cattle reveals novel recessive loci.
Genetics, selection, evolution : GSE | 2022-01-24 | PMID 35073835
Reynolds Edwardo G M, Lopdell Thomas, Wang Yu and 12 more
Runs of homozygosity in Swiss goats reveal genetic changes associated with domestication and modern selection.
Genetics, selection, evolution : GSE | 2022-01-24 | PMID 35073837
Signer-Hasler Heidi, Henkel Jan, Bangerter Erika and 4 more
Iam hiQ-a novel pair of accuracy indices for imputed genotypes.
BMC bioinformatics | 2022-01-24 | PMID 35073846
Rosenberger Albert, Tozzi Viola, Bickeböller Heike
Case-control study on TP73 rs1801173 C > T gene polymorphism and susceptibility to gastric cancer in a Chinese Han population.
BMC medical genomics | 2022-01-24 | PMID 35073920
Pan Huiwen, Gu Xuyu, Wang Xiaoyan and 4 more
Genotyping of Chlamydia abortus using multiple loci variable number of tandem repeats analysis technique.
BMC veterinary research | 2022-01-24 | PMID 35073930
Barati Sara, Bakhtiari Naghmeh Moori, Shokoohizadeh Leili and 2 more
Three Patterns of Inheritance of Quantitative Dermatoglyphic Traits: Kosovo Albanian Twin Study.
Twin research and human genetics : the official journal of the International Society for Twin Studies | 2021-12-01 | PMID 35074022
Temaj Gazmend, Škarić-Jurić Tatjana, Butković Ana and 3 more
A low-tech, cost-effective and efficient method for safeguarding genetic diversity by direct cryopreservation of poultry embryonic reproductive cells.
eLife | 2022-01-25 | PMID 35074046
Hu Tuanjun, Taylor Lorna, Sherman Adrian and 6 more
Development of an Optimized Tetra-Amplification Refractory Mutation System PCR for Detection of 12 Pathogenic Familial Hypercholesterolemia Variants in the Asian Population.
The Journal of molecular diagnostics : JMD | 2022-02-01 | PMID 35074074
Rosman Norhidayah, Nawawi Hapizah M, Al-Khateeb Alyaa and 2 more
Era of TB elimination: Growing need to understand diversities of Mycobacterium tuberculosis lineages!
The Indian journal of tuberculosis | 2022-01-01 | PMID 35074155
Tejashree A, Mahesh P A, Krishna Karthik M and 5 more
Olaparib Use in Patients With Metastatic Breast Cancer Harboring Somatic BRCA1/2 Mutations or Mutations in Non-BRCA1/2, DNA Damage Repair Genes.
Clinical breast cancer | 2022-06-01 | PMID 35074264
Walsh Elaine M, Mangini Neha, Fetting John and 15 more
Clinical, immunological and genomic characteristics of children with X-linked agammaglobulinemia from Kerala, South India.
Human immunology | 2022-04-01 | PMID 35074268
Madathil Govindaraj Geeta, Jain Abhinav, Edavazhippurath Athulya and 20 more
Clinical impact of variants in non-coding regions of SHOX - Current knowledge.
Gene | 2022-04-15 | PMID 35074420
Spurna Zuzana, Capkova Pavlina, Srovnal Josef and 4 more
Comprehensive assessment of germline pathogenic variant detection in tumor-only sequencing.
Annals of oncology : official journal of the European Society for Medical Oncology | 2022-04-01 | PMID 35074424
Terraf P, Pareja F, Brown D N and 18 more
Role of conserved regulatory loop residues in allosteric propagation of serine protease HtrA2.
Biochemical and biophysical research communications | 2022-02-26 | PMID 35074587
Parui Aasna L, Singh Nitu, Dutta Shubhankar and 1 more
Mendelian randomization study on the causal effects of tumor necrosis factor inhibition on coronary artery disease and ischemic stroke among the general population.
EBioMedicine | 2022-02-01 | PMID 35074627
Kang Xiaoying, Jiao Tong, Wang Haiyang and 2 more
GII.4 human norovirus and G8P[1] bovine-like rotavirus in oysters (Crassostrea gigas) from Argentina.
International journal of food microbiology | 2022-03-16 | PMID 35074658
Mozgovoj M, Miño S, Barbieri E S and 8 more
Genome-Wide Association Analyses Identify CATSPERE as a Mediator of Colorectal Cancer Susceptibility and Progression.
Cancer research | 2022-03-15 | PMID 35074755
Meng Yixuan, Du Mulong, Gu Dongying and 11 more
Identification of genetic risk loci and prioritization of genes and pathways for myasthenia gravis: a genome-wide association study.
Proceedings of the National Academy of Sciences of the United States of America | 2022-02-01 | PMID 35074870
Chia Ruth, Saez-Atienzar Sara, Murphy Natalie and 13 more
Development and Validation of a Prediction Model for Early Diagnosis of SCN1A-Related Epilepsies.
Neurology | 2022-03-15 | PMID 35074891
Brunklaus Andreas, Pérez-Palma Eduardo, Ghanty Ismael and 19 more
Sex-specific splicing of Z- and W-borne nr5a1 alleles suggests sex determination is controlled by chromosome conformation.
Proceedings of the National Academy of Sciences of the United States of America | 2022-01-25 | PMID 35074916
Zhang Xiuwen, Wagner Susan, Holleley Clare E and 11 more
Disruption of MeCP2-TCF20 complex underlies distinct neurodevelopmental disorders.
Proceedings of the National Academy of Sciences of the United States of America | 2022-01-25 | PMID 35074918
Zhou Jian, Hamdan Hamdan, Yalamanchili Hari Krishna and 21 more
Structures of the peptidase-containing ABC transporter PCAT1 under equilibrium and nonequilibrium conditions.
Proceedings of the National Academy of Sciences of the United States of America | 2022-01-25 | PMID 35074919
Kieuvongngam Virapat, Chen Jue
The association between mutations in ubiquitin-specific protease 26 (USP26) and male infertility: a systematic review and meta-analysis.
Asian journal of andrology | 2000-01-01 | PMID 35074940
Li Qin-Yu, Zhang Yu-Cong, Wei Chao and 7 more
Genetic pathogenesis of acephalic spermatozoa syndrome: past, present, and future.
Asian journal of andrology | 2000-01-01 | PMID 35074941
Wang Yu, Xiang Ming-Fei, Zheng Na and 2 more
Association study of polymorphism in Thrombomodulin gene [rs1042579] with cardiovascular disease.
Acta bio-medica : Atenei Parmensis | 2022-01-19 | PMID 35075098
Khosravi Elham, Sadeghian Ladan, Mohamadynejad Parisa and 3 more
Body mass index interacts with a genetic-risk score for depression increasing the risk of the disease in high-susceptibility individuals.
Translational psychiatry | 2022-01-24 | PMID 35075110
Anguita-Ruiz Augusto, Zarza-Rebollo Juan Antonio, Pérez-Gutiérrez Ana M and 16 more
Significance of gene variants for the functional biogeography of the near-surface Atlantic Ocean microbiome.
Nature communications | 2022-01-24 | PMID 35075131
Dlugosch Leon, Poehlein Anja, Wemheuer Bernd and 4 more
Neural correlates of reward processing distinguish healthy youth at familial risk for bipolar disorder from youth at familial risk for major depressive disorder.
Translational psychiatry | 2022-01-24 | PMID 35075136
Nimarko Akua F, Gorelik Aaron J, Carta Kayla E and 2 more
VEGF-A, VEGFR1 and VEGFR2 single nucleotide polymorphisms and outcomes from the AGITG MAX trial of capecitabine, bevacizumab and mitomycin C in metastatic colorectal cancer.
Scientific reports | 2022-01-24 | PMID 35075138
Chionh Fiona, Gebski Val, Al-Obaidi Sheren J and 13 more
Mutations in viral nucleocapsid protein and endoRNase are discovered to associate with COVID19 hospitalization risk.
Scientific reports | 2022-01-24 | PMID 35075180
Zhao Lue Ping, Roychoudhury Pavitra, Gilbert Peter and 15 more
Selective signatures and high genome-wide diversity in traditional Brazilian manioc (Manihot esculenta Crantz) varieties.
Scientific reports | 2022-01-24 | PMID 35075210
Alves-Pereira Alessandro, Zucchi Maria Imaculada, Clement Charles R and 4 more
Antisense oligonucleotide silencing of FUS expression as a therapeutic approach in amyotrophic lateral sclerosis.
Nature medicine | 2022-01-01 | PMID 35075293
Korben Vlad A., Lyashchenko Alexander K, Blanco-Redondo Beatriz and 2 more
Genes: FUS
Genetic Polymorphism of Matrix Metalloproteinase-9 and Susceptibility to Myocardial Infarction: A Meta-Analysis.
Disease markers | 2022-01-01 | PMID 35075377
Feng Beili, Li Hengdong
The importance of joint line obliquity: a radiological analysis of restricted boundaries in normal knee phenotypes to inform surgical decision making in kinematically aligned total knee arthroplasty.
Knee surgery, sports traumatology, arthroscopy : official journal of the ESSKA | 2022-09-01 | PMID 35075509
MacDessi Samuel J, Allom Richard J, Griffiths-Jones Will and 3 more
Modeling the growth of four commercial broiler genotypes reared in the tropics.
Tropical animal health and production | 2022-01-25 | PMID 35075544
Hagan Bernard Ato, Asumah Christian, Yeboah Ernest Darkwah and 1 more
Detection of Norovirus Recombinant GII.2[P16] Strains in Oysters in Thailand.
Food and environmental virology | 2022-03-01 | PMID 35075605
Kittigul Leera, Pombubpa Kannika, Rupprom Kitwadee and 1 more
Two-step hypothesis testing to detect gene-environment interactions in a genome-wide scan with a survival endpoint.
Statistics in medicine | 2022-04-30 | PMID 35075649
Kawaguchi Eric S, Li Gang, Lewinger Juan Pablo and 1 more
Homozygous missense variant in POPDC3 causes recessive limb-girdle muscular dystrophy type 26.
The journal of gene medicine | 2022-04-01 | PMID 35075722
Ullah Anwar, Lin Zhaohan, Younus Muhammad and 8 more
Polygenic adaptation and negative selection across traits, years and environments in a long-lived plant species (Pinus pinaster Ait., Pinaceae).
Molecular ecology | 2022-04-01 | PMID 35075727
de Miguel Marina, Rodríguez-Quilón Isabel, Heuertz Myriam and 9 more
Genes regulated by DNA methylation are involved in distinct phenotypes during melanoma progression and are prognostic factors for patients.
Molecular oncology | 2022-05-01 | PMID 35075772
Papaiz Debora D'Angelo, Rius Flávia Eichemberger, Ayub Ana Luísa Pedroso and 10 more
Evolutionary characteristics and immune mutation of hepatitis C virus genotype 1b among intravenous drug users in mainland, China.
Journal of viral hepatitis | 2022-03-01 | PMID 35075775
Wu Sheng, Yuan Huangbo, Fan Hong and 7 more
Three-dimensional-printed polycaprolactone/polypyrrole conducting scaffolds for differentiation of human olfactory ecto-mesenchymal stem cells into Schwann cell-like phenotypes and promotion of neurite outgrowth.
Journal of biomedical materials research. Part A | 2022-05-01 | PMID 35075781
Entezari Maedeh, Mozafari Masoud, Bakhtiyari Mehrdad and 3 more
Subversion of infiltrating prostate macrophages to a mixed immunosuppressive tumor-associated macrophage phenotype.
Clinical and translational medicine | 2022-01-01 | PMID 35075795
Boibessot Clovis, Molina Oscar, Lachance Gabriel and 10 more
Diagnostic and public health investigation of Mycobacterium tuberculosis infection in a dog in Ontario, Canada.
Journal of veterinary diagnostic investigation : official publication of the American Association of Veterinary Laboratory Diagnosticians, Inc | 2022-03-01 | PMID 35075970
Haydock Luke A J, Abrams-Ogg Anthony C G, Weese J Scott and 14 more
The first three waves of the Covid-19 pandemic hint at a limited genetic repertoire for SARS-CoV-2.
FEMS microbiology reviews | 2022-05-06 | PMID 35076068
Wassenaar Trudy M, Wanchai Visanu, Buzard Gregory and 1 more
Nonalcoholic Fatty Liver Disease and Associated Risk Factors in a Community-Based Sample of Mexican-Origin Adults.
Hepatology communications | 2022-06-01 | PMID 35076162
Garcia David O, Morrill Kristin E, Lopez-Pentecost Melissa and 6 more
Mendelian etiologies identified with whole exome sequencing in cerebral palsy.
Annals of clinical and translational neurology | 2022-02-01 | PMID 35076175
Chopra Maya, Gable Dustin L, Love-Nichols Jamie and 36 more
Genes: CP, ACADM, PDHX, SPAST, ADAT3, ATL1, COL4A1, ECHS1
Plasma miR-21 as a potential predictor in prediabetic individuals with a positive family history of type 2 diabetes mellitus.
Physiological reports | 2022-01-01 | PMID 35076188
Yazdanpanah Zakieh, Kazemipour Nasrin, Kalantar Seyed Mehdi and 1 more
Structural basis of SARS-CoV-2 Omicron immune evasion and receptor engagement.
Science (New York, N.Y.) | 2022-02-25 | PMID 35076256
McCallum Matthew, Czudnochowski Nadine, Rosen Laura E and 14 more
Enhanced Taq Variant Enables Efficient Genome Editing Testing and Mutation Detection.
The CRISPR journal | 2022-02-01 | PMID 35076264
Du Ping, Li Bo, Liu Xiaodan and 4 more
Use of multiple polygenic risk scores for distinguishing schizophrenia-spectrum disorder and affective psychosis categories in a first-episode sample; the EU-GEI study.
Psychological medicine | 2023-06-01 | PMID 35076361
Rodriguez Victoria, Alameda Luis, Quattrone Diego and 33 more
Genetic Diversity of Bartonella spp. in Cave-Dwelling Bats and Bat Flies, Costa Rica, 2018.
Emerging infectious diseases | 2022-02-01 | PMID 35076376
Mitchell Miranda M, Vicente-Santos Amanda, Rodríguez-Herrera Bernal and 2 more
Structure of the human ATM kinase and mechanism of Nbs1 binding.
eLife | 2022-01-25 | PMID 35076389
Warren Christopher, Pavletich Nikola P
Population-Based Penetrance of Deleterious Clinical Variants.
JAMA | 2022-01-25 | PMID 35076666
Forrest Iain S, Chaudhary Kumardeep, Vy Ha My T and 8 more
Genes: BRCA1, BRCA2, PALB2
Arterial Stiffness, Genetic Risk, and Type 2 Diabetes: A Prospective Cohort Study.
Diabetes care | 2022-04-01 | PMID 35076696
Wang Mengying, Huang Jie, Wu Tao and 1 more
Amyotrophic lateral sclerosis with SOD1 mutations shows distinct brain metabolic changes.
European journal of nuclear medicine and molecular imaging | 2022-06-01 | PMID 35076740
Canosa Antonio, Calvo Andrea, Moglia Cristina and 15 more
A novel mutation at the AMEL primer binding region on the Y chromosome in AMELY negative male.
International journal of legal medicine | 2022-03-01 | PMID 35076748
Takayama Tomohiro
Mean apparent propagator-MRI in evaluation of glioma grade, cellular proliferation, and IDH-1 gene mutation status.
European radiology | 2022-06-01 | PMID 35076759
Sun Yifan, Su Changliang, Deng Kaiji and 3 more
Helminth fauna of the Eurasian beaver in the Czech Republic with remarks on the genetic diversity of specialist Stichorchis subtriquetrus (Digenea: Cladorchiidae).
Parasitology research | 2022-02-01 | PMID 35076776
Benovics M, Reslová N, Škorpíková L and 2 more
Recent molecular evolution of hepatitis B virus genotype F in Latin America.
Archives of virology | 2022-02-01 | PMID 35076792
Wolf Jonas Michel, Mazeto Thiago Kastell, Pereira Vagner Reinaldo Zingalli Bueno and 2 more
Broadening the horizon of crop research: a decade of advancements in plant molecular genetics to divulge phenotype governing genes.
Planta | 2022-01-25 | PMID 35076815
Singh Ritu, Kumar Kamal, Bharadwaj Chellapilla and 1 more
Association of PD-1 and PDL-1 gene polymorphisms with colorectal cancer risk and prognosis.
Molecular biology reports | 2022-03-01 | PMID 35076848
Cevik Mehtap, Namal Esat, Iner-Koksal Ulkuhan and 4 more
Quantitative trait loci mapping of stem sugar content and stem diameter in sorghum recombinant inbred lines using genotyping-by-sequencing.
Molecular biology reports | 2022-04-01 | PMID 35076849
Takele Abera, Feyissa Tileye, Disasa Tesfaye
Genetic diversity among local mango (Mangifera indica L.) germplasm using morphological, biochemical and chloroplast DNA barcodes analyses.
Molecular biology reports | 2022-05-01 | PMID 35076854
Kumar Sanjay, Kaushik Ram Avtar, Jain Devendra and 4 more
Panobinostat in adults with H3 K27M-mutant diffuse midline glioma: a single-center experience.
Journal of neuro-oncology | 2022-03-01 | PMID 35076860
Neth Bryan J, Balakrishnan Samantha N, Carabenciov Ivan D and 4 more
Uric Acid, Hypertensive Phenotypes, and Organ Damage: Data from the Pamela Study.
Current hypertension reports | 2022-02-01 | PMID 35076878
Grassi Guido, Vanoli Jennifer, Facchetti Rita and 1 more
The contributing factors of resistance or sensitivity to epigenetic drugs in the treatment of AML.
Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico | 2022-07-01 | PMID 35076883
Karimi Kelaye Shohre, Najafi Fatemeh, Kazemi Bahareh and 4 more
[Analysis of SLC25A13 gene variants in 16 infants with intrahepatic cholestasis caused by citrin protein deficiency].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2022-02-10 | PMID 35076907
Liu Wenwen, Ma Xin, Wang Meijuan and 2 more
[Genetic testing and prenatal diagnosis for thirteen Chinese pedigrees affected with oculocutaneous albinism].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2022-02-10 | PMID 35076908
Yang Yujiao, Mao Bin, Wang Qiong and 3 more
[Clinical features and genetic testing of a child with hepatic failure syndrome type 2].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2022-02-10 | PMID 35076915
Jiang Tao, Ouyang Wenxian, Tan Yanfang and 3 more
[Analysis of LRP5 gene variants in a Chinese pedigree affected with Osteoporosis-pseudoglioma syndrome].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2022-02-10 | PMID 35076916
Bai Zhouxian, Jiao Zhihui, Kong Xiangdong
[Variation analysis of EPG5 gene in a Vici syndrome family].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2022-02-10 | PMID 35076917
Yan Lulu, Cai Yan, Liu Yingwen and 5 more
[Analysis of CNTNAP1 gene variants in a Chinese pedigree affected with lethal congenital contracture syndrome type 7].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2022-02-10 | PMID 35076918
Zhang Ying, Yang Shuya, Huo Xiaodong and 2 more
[Clinical and genetic analysis of a Chinese pedigree affected with benign familial neonatal convulsion].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2022-02-10 | PMID 35076919
Zeng Feng, Song Feifei, Ke Huan and 1 more
[Analysis of ADAR gene variant in a Chinese pedigree affected with dyschromatosis symmetrica hereditaria].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2022-02-10 | PMID 35076920
Wang Changyin, Xia Siman, Cui Zhengjun and 4 more
[Analysis of HNF1B gene variant in a fetus featuring infantile polycystic kidney disease].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2022-02-10 | PMID 35076921
Zhang Yan, Zeng Lina, Lin Li and 1 more
[Genetic analysis of PYGL gene variants for a child with Glycogen storage disease VI].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2022-02-10 | PMID 35076922
Zheng Yucan, Kong Guiping, Hu Guorui and 2 more