Changes in Glucose Breath Test in Cystic Fibrosis Patients Treated With 1 Month of Lumacaftor/Ivacaftor.
Journal of pediatric gastroenterology and nutrition | 2022-07-01 | PMID 35442228
Gabel Megan E, Wang Hongyue, Gelfond Daniel and 5 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 8888 of 10600
Behavioral traits and sexual recognition: multiple signaling in the reproductive behavior of Cyclocephala distincta (Melolonthidae, Cyclocephalini).
Anais da Academia Brasileira de Ciencias | 2022-01-01 | PMID 35442264
Nóbrega Rafaella L, Maia Artur C D, Lima Carla Helena M DE and 3 more
A loss-of-function IFNAR1 allele in Polynesia underlies severe viral diseases in homozygotes.
The Journal of experimental medicine | 2022-06-06 | PMID 35442418
Bastard Paul, Hsiao Kuang-Chih, Zhang Qian and 61 more
Average semivariance directly yields accurate estimates of the genomic variance in complex trait analyses.
G3 (Bethesda, Md.) | 2022-05-30 | PMID 35442424
Feldmann Mitchell J, Piepho Hans-Peter, Knapp Steven J
Prader-Willi Syndrome and PCSK1 mutation: a novel presentation of combined syndromic and monogenic obesity.
European review for medical and pharmacological sciences | 2022-04-01 | PMID 35442499
Kostopoulou E, Spilioti D X, Pantzaris N D and 1 more
Common Variant in ALDH2 Modifies the Risk of Breast Cancer Among Carriers of the p.K3326* Variant in BRCA2.
JCO precision oncology | 2022-04-01 | PMID 35442721
Kluźniak Wojciech, Szymiczek Agata, Rodrigue Amelie and 12 more
A somatic mutation in moesin drives progression into acute myeloid leukemia.
Science advances | 2022-04-22 | PMID 35442741
Yuan Ouyang, Ugale Amol, de Marchi Tommaso and 13 more
ACVR1-activating mutation causes neuropathic pain and sensory neuron hyperexcitability in humans.
Pain | 2023-01-01 | PMID 35442931
Yu Xiaobing, Ton Amy N, Niu Zejun and 17 more
Efficient estimation of SNP heritability using Gaussian predictive process in large scale cohort studies.
PLoS genetics | 2022-04-01 | PMID 35442943
Seal Souvik, Datta Abhirup, Basu Saonli
All2: A tool for selecting mosaic mutations from comprehensive multi-cell comparisons.
PLoS computational biology | 2022-04-01 | PMID 35442945
Sarangi Vivekananda, Jang Yeongjun, Suvakov Milovan and 7 more
Clinical significance and intestinal microbiota composition in immunocompromised children with norovirus gastroenteritis.
PloS one | 2022-01-01 | PMID 35443009
Lin Pei-Chun, Yang Yu-Chen S H, Lin Sheng-Chieh and 5 more
MAPK Pathway Genetic Alterations Are Associated with Prolonged Overall Survival in Low-Grade Serous Ovarian Carcinoma.
Clinical cancer research : an official journal of the American Association for Cancer Research | 2022-10-14 | PMID 35443055
Manning-Geist Beryl, Gordhandas Sushmita, Liu Ying L and 14 more
The novel HLA-A*24:49:02 and HLA-DQB1*06:428 alleles identified in Indian bone marrow donors.
HLA | 2022-08-01 | PMID 35443075
Thakker Nirali C, Chaudhary Akshay, Kumar Harishankar and 2 more
[Association between genetic predisposition to childhood obesity and the risk of adult ischemic heart disease in China].
Zhonghua liu xing bing xue za zhi = Zhonghua liuxingbingxue zazhi | 2022-04-10 | PMID 35443296
Wang W X, Huang N H, Lyu J and 8 more
[Analysis of HIV-1 genetic subtype and pretreatment drug resistance among men who have sex with men infected with HIV-1 from 19 cities of 6 provinces in China].
Zhonghua liu xing bing xue za zhi = Zhonghua liuxingbingxue zazhi | 2022-04-10 | PMID 35443307
Zhang R, Dong T L, Liang W L and 17 more
The mutational landscape in chronic myelomonocytic leukemia and its impact on allogeneic hematopoietic cell transplantation outcomes: a Center for Blood and Marrow Transplantation Research (CIBMTR) analysis.
Haematologica | 2023-01-01 | PMID 35443559
Mei Matthew, Pillai Raju, Kim Soyoung and 43 more
Clinical Application for Diagnosis of Myelodysplatic/Myeloproliferative Neoplasm with Ring Sideroblasts and Thrombocytosis.
Clinical laboratory | 2022-04-01 | PMID 35443589
Lee Min Young, Jang Seongsoo, Park Chan-Jeoung and 1 more
Fatal Prototheca zopfii Algaemia in a Patient with Acute Lymphoblastic Leukemia: a Case Report.
Clinical laboratory | 2022-04-01 | PMID 35443595
Kim Tae Yeul, Yu Hui-Jin, Kang On Kyun and 6 more
Exhausted phenotype of circulating CD8+ T cell subsets in hepatitis B virus carriers.
BMC immunology | 2022-04-20 | PMID 35443611
Jiang Daixi, Chen Can, Yan Danying and 5 more
Useful diagnostic histogenetic features of ectopic odontogenic ghost cell tumours.
BMC oral health | 2022-04-20 | PMID 35443664
Noda Yuri, Ohe Chisato, Ishida Mitsuaki and 8 more
Mutations of PI3K-AKT-mTOR pathway as predictors for immune cell infiltration and immunotherapy efficacy in dMMR/MSI-H gastric adenocarcinoma.
BMC medicine | 2022-04-21 | PMID 35443723
Wang Zhenghang, Wang Xinyu, Xu Yu and 14 more
Catechol-O-methyltransferase activity does not influence emotional processing in men.
Journal of psychopharmacology (Oxford, England) | 2022-06-01 | PMID 35443830
Martens Marieke Ag, Dalton Nina, Scaife Jessica and 3 more
Genes: COMT
Contamination of fresh vegetables in municipal stores with pathogenic Acanthamoeba genotypes; a public health concern.
International journal of environmental health research | 2023-10-01 | PMID 35443833
Fatemi Marziye, Niyyati Maryam, Rouhani Soheila and 3 more
Study protocol for a multi-institutional prospective surveillance study among kindreds with familial pancreatic cancer and individuals with hereditary pancreatic cancer syndrome: The Diamond Study.
Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.] | 2022-05-01 | PMID 35443912
Hijioka Susumu, Morizane Chigusa, Takaori Kyoichi and 1 more
Non-B subtypes account for a large proportion of clustered primary HIV-1 infections in Italy.
Sexually transmitted infections | 2023-02-01 | PMID 35443987
Bozzi Giorgio, Fabeni Lavinia, Abbate Isabella and 22 more
RECK Variants are Associated with Clinicopathological Features and Decreased Susceptibility in Mexican Patients with Colorectal Cancer.
The Tohoku journal of experimental medicine | 2022-06-08 | PMID 35444107
María Márquez-González Rosa, Margarita Saucedo-Sariñana Anilú, Barros-Núñez Patricio and 6 more
Tensin 2-deficient nephropathy: mechanosensitive nephropathy, genetic susceptibility.
Experimental animals | 2022-08-05 | PMID 35444113
Sasaki Hayato, Sasaki Nobuya
Evaluation of a seven gene mutational profile as a prognostic factor in a population-based study of clear cell renal cell carcinoma.
Scientific reports | 2022-04-20 | PMID 35444164
van de Pol Jeroen A A, Ferronika Paranita, Westers Helga and 8 more
Hippocampal volume, FKBP5 genetic risk alleles, and childhood trauma interact to increase vulnerability to chronic multisite musculoskeletal pain.
Scientific reports | 2022-04-20 | PMID 35444168
Lobo Jarred J, Ayoub Lizbeth J, Moayedi Massieh and 1 more
Dormant state of quiescent neural stem cells links Shank3 mutation to autism development.
Molecular psychiatry | 2022-06-01 | PMID 35444258
Kim Hongwon, Cho Byounggook, Park Hanseul and 6 more
Intron-mediated induction of phenotypic heterogeneity.
Nature | 2022-05-01 | PMID 35444278
Lukačišin Martin, Espinosa-Cantú Adriana, Bollenbach Tobias
Glycometabolic reprogramming-mediated proangiogenic phenotype enhancement of cancer-associated fibroblasts in oral squamous cell carcinoma: role of PGC-1α/PFKFB3 axis.
British journal of cancer | 2022-08-01 | PMID 35444287
Li Xiang, Jiang Erhui, Zhao Hui and 5 more
Genetic diversity and population structure of muscovy duck (Cairina moschata) from Nigeria.
PeerJ | 2022-01-01 | PMID 35444865
Adeola Adeniyi C, Sola-Ojo Foluke E, Opeyemi Yusuf A and 9 more
Correlation Between Genetic Abnormalities in Induced Pluripotent Stem Cell-Derivatives and Abnormal Tissue Formation in Tumorigenicity Tests.
Stem cells translational medicine | 2022-05-27 | PMID 35445254
Yamamoto Takako, Sato Yoji, Yasuda Satoshi and 12 more
Identifying factors contributing to increased susceptibility to COVID-19 risk: a systematic review of Mendelian randomization studies.
International journal of epidemiology | 2022-08-10 | PMID 35445260
Luo Shan, Liang Ying, Wong Tommy Hon Ting and 2 more
2q35-rs13387042 variant and the risk of breast cancer: a case-control study.
Molecular biology reports | 2022-05-01 | PMID 35445312
Nesaei Abolfazl, Naderi Ghale-Noie Zari, Khorshid Shamshiri Asma and 5 more
Williams syndrome: reduced orienting to other's eyes in a hypersocial phenotype.
Journal of autism and developmental disorders | 2023-07-01 | PMID 35445369
Kleberg Johan Lundin, Riby Deborah, Fawcett Christine and 7 more
Hematopoiesis of Indeterminate Potential and Atherothrombotic Risk.
Thrombosis and haemostasis | 2022-09-01 | PMID 35445383
Murphy Andrew J, Dragoljevic Dragana, Natarajan Pradeep and 1 more
How do I diagnose Maturity Onset Diabetes of the Young in my patients?
Clinical endocrinology | 2022-10-01 | PMID 35445424
Colclough Kevin, Patel Kashyap
A novel desmoplakin mutation causes dilated cardiomyopathy with palmoplantar keratoderma as an early clinical sign.
Journal of the European Academy of Dermatology and Venereology : JEADV | 2022-08-01 | PMID 35445468
Karvonen V, Harjama L, Heliö K and 10 more
Recent insights into the structure and function of coronavirus ribonucleases.
FEBS open bio | 2022-09-01 | PMID 35445579
Frazier Meredith N, Riccio Amanda A, Wilson Isha M and 2 more
Comprehensive Mutation Profile in Acute Myeloid Leukemia Patients with RUNX1-RUNX1T1 or CBFB-MYH11 Fusions
Turkish journal of haematology : official journal of Turkish Society of Haematology | 2022-06-01 | PMID 35445594
Qin Wei, Chen Xiayu, Shen Hong Jie and 4 more
Three Third-Generation Epidermal Growth Factor Receptor Tyrosine Kinase Inhibitors in Non-Small Cell Lung Cancer: Similarities and Differences.
Cancer investigation | 2022-08-01 | PMID 35445633
Chen Ling, Zhou Yangqingqing, Gan Chaosheng and 5 more
A3D database: structure-based predictions of protein aggregation for the human proteome.
Bioinformatics (Oxford, England) | 2022-05-26 | PMID 35445695
Badaczewska-Dawid Aleksandra E, Garcia-Pardo Javier, Kuriata Aleksander and 3 more
Psychosocial-Behavioral Phenotyping: A Novel Precision Health Approach to Modeling Behavioral, Psychological, and Social Determinants of Health Using Machine Learning.
Annals of behavioral medicine : a publication of the Society of Behavioral Medicine | 2022-11-18 | PMID 35445699
Burgermaster Marissa, Rodriguez Victor A
Molecular mechanisms of tumour budding and its association with microenvironment in colorectal cancer.
Clinical science (London, England : 1979) | 2022-04-29 | PMID 35445707
Hatthakarnkul Phimmada, Quinn Jean A, Ammar Aula and 5 more
Pancreatic Ductal Carcinoma Risk Associated With Hereditary Cancer-Risk Genes.
Journal of the National Cancer Institute | 2022-07-11 | PMID 35445726
Gardiner Anna, Kidd John, Elias Maria C and 7 more
MLKs kinases phosphorylate the ESCRT component FREE1 to suppress abscisic acid sensitivity of seedling establishment.
Plant, cell & environment | 2022-07-01 | PMID 35445753
Li Hongbo, Wei Juan, Liao Yanglan and 6 more
Multienvironment QTL analysis delineates a major locus associated with homoeologous exchanges for water-use efficiency and seed yield in canola.
Plant, cell & environment | 2022-07-01 | PMID 35445756
Raman Harsh, Raman Rosy, Pirathiban Ramethaa and 13 more
Genome-wide survey on three local horse populations with a focus on runs of homozygosity pattern.
Journal of animal breeding and genetics = Zeitschrift fur Tierzuchtung und Zuchtungsbiologie | 2022-09-01 | PMID 35445758
Criscione Andrea, Mastrangelo Salvatore, D'Alessandro Enrico and 5 more
Omicron - The new SARS-CoV-2 challenge?
Reviews in medical virology | 2022-07-01 | PMID 35445774
Lino A, Cardoso M A, Martins-Lopes P and 1 more
Genetic mouse models of autism spectrum disorder present subtle heterogenous cardiac abnormalities.
Autism research : official journal of the International Society for Autism Research | 2022-07-01 | PMID 35445787
Assimopoulos Stephania, Hammill Christopher, Fernandes Darren J and 7 more
Surgical management of abdominal desmoids: a systematic review and meta-analysis.
Irish journal of medical science | 2023-04-01 | PMID 35445926
Moore Dave, Burns Lucy, Creavin Ben and 4 more
Peripheral distributions of IL-4-producing CD4 + T cells and CD4 + CD25 + FoxP3 + T cells (Tregs) in rheumatoid arthritis patients with poor response to therapy are associated with HLA shared epitope alleles and ACPA status.
Immunologic research | 2022-08-01 | PMID 35445929
Tahamoli-Roudsari Ahmad, Tabatabaei Raheleh, Alvandpur Niloofar and 8 more
Four novel mutations in the androgen receptor gene from Vietnamese patients with androgen insensitivity syndrome.
Genes & genomics | 2023-04-01 | PMID 35445939
Nguyen Thu Hien, Nguyen Duc Quan, Kim Lien Nguyen Thi and 4 more
Association between MAP3K4 gene polymorphisms and the risk of schizophrenia susceptibility in a Northeast Chinese Han population.
Metabolic brain disease | 2022-06-01 | PMID 35445959
Sun Yang, Lv Ye, Ren Hui-Wen and 4 more
Novel Epitopes of the Influenza Virus N1 Neuraminidase Targeted by Human Monoclonal Antibodies.
Journal of virology | 2022-05-11 | PMID 35446141
Kirkpatrick Roubidoux Ericka, Sano Kaori, McMahon Meagan and 7 more
Comparative Genomics Reveals Genetic Diversity and Metabolic Potentials of the Genus Qipengyuania and Suggests Fifteen Novel Species.
Microbiology spectrum | 2022-06-29 | PMID 35446150
Liu Yang, Pei Tao, Du Juan and 3 more
Computational screening and analysis of deleterious nsSNPs in human p14ARF (CDKN2A gene) protein using molecular dynamic simulation approach.
Journal of biomolecular structure & dynamics | 2023-06-01 | PMID 35446184
Ahmad Syed Umair, Ali Yasir, Jan Zainab and 6 more
Population pharmacokinetics of methotrexate in paediatric patients with acute lymphoblastic leukaemia and malignant lymphoma.
Xenobiotica; the fate of foreign compounds in biological systems | 2022-03-01 | PMID 35446233
Zhan Min, Sun Yiqi, Zhou Fang and 4 more
Evolutionary changes between pre- and post-vaccine South African group A G2P[4] rotavirus strains, 2003-2017.
Microbial genomics | 2022-04-01 | PMID 35446251
Mwangi Peter N, Page Nicola A, Seheri Mapaseka L and 11 more
Cytosolic Ca2+-dependent Ca2+ release activity primarily determines the ER Ca2+ level in cells expressing the CPVT-linked mutant RYR2.
The Journal of general physiology | 2022-09-05 | PMID 35446340
Kurebayashi Nagomi, Murayama Takashi, Ota Ryosaku and 8 more
Association of Pathogenic Variants in Hereditary Cancer Genes With Multiple Diseases.
JAMA oncology | 2022-06-01 | PMID 35446370
Zeng Chenjie, Bastarache Lisa A, Tao Ran and 30 more
High-throughput phenotyping of physiological traits for wheat resilience to high temperature and drought stress.
Journal of experimental botany | 2022-09-03 | PMID 35446418
Correia Pedro M P, Cairo Westergaard Jesper, Bernardes da Silva Anabela and 3 more
ANANASTRA: annotation and enrichment analysis of allele-specific transcription factor binding at SNPs.
Nucleic acids research | 2022-07-05 | PMID 35446421
Boytsov Alexandr, Abramov Sergey, Aiusheeva Ariuna Z and 10 more
Cas9-guided haplotyping of three truncation variants in autosomal recessive disease.
Human mutation | 2022-07-01 | PMID 35446444
Natsuga Ken, Furuta Yoshikazu, Takashima Shota and 9 more
uORF-introducing variants in the 5'UTR of the NIPBL gene as a cause of Cornelia de Lange syndrome.
Human mutation | 2022-09-01 | PMID 35446447
Coursimault Juliette, Rovelet-Lecrux Anne, Cassinari Kévin and 14 more
Association of obesity in T2DM with differential polymorphism of ghrelin, growth hormone secretagogue receptor-1 and telomeres maintenance genes.
Hormone molecular biology and clinical investigation | 2022-09-01 | PMID 35446515
Giha Hayder A, Joatar Faris E, AlDehaini Dhuha M B and 3 more
Three Mutations Convert the Selectivity of a Protein Sensor from Nicotinic Agonists to S-Methadone for Use in Cells, Organelles, and Biofluids.
Journal of the American Chemical Society | 2022-05-18 | PMID 35446570
Muthusamy Anand K, Kim Charlene H, Virgil Scott C and 7 more
Conformational Constrained 4-(1-Sulfonyl-3-indol)yl-2-phenylaminopyrimidine Derivatives as New Fourth-Generation Epidermal Growth Factor Receptor Inhibitors Targeting T790M/C797S Mutations.
Journal of medicinal chemistry | 2022-05-12 | PMID 35446588
Chen Hao, Lai Mengzhen, Zhang Tao and 9 more
A fresh look at somatic mutations in cancer.
Science (New York, N.Y.) | 2022-04-22 | PMID 35446665
Szüts Dávid
Gradual domestication of root traits in the earliest maize from Tehuacán.
Proceedings of the National Academy of Sciences of the United States of America | 2022-04-26 | PMID 35446704
Lopez-Valdivia Ivan, Perkins Alden C, Schneider Hannah M and 7 more
Sequence variability of CatSper1 and TNP2 gene in indigenous and crossbred cattle in Bangladesh.
Animal biotechnology | 2023-12-01 | PMID 35446730
Jahan Nusrat, Wasim Muhammad, Rubaya Rubaya and 8 more
Bioinformatics and genetic variants analysis of FGF10 gene promoter with their association at carcass quality and body measurement traits in Qinchuan beef cattle.
Animal biotechnology | 2023-11-01 | PMID 35446746
Nurgulsim Kaster, Khan Rajwali, Raza Sayad Haidar Abbas and 7 more
Losartan ameliorates TGF-β1-induced CFTR dysfunction and improves correction by cystic fibrosis modulator therapies.
The Journal of clinical investigation | 2022-06-01 | PMID 35446787
Kim Michael D, Bengtson Charles D, Yoshida Makoto and 4 more
SMARCB1-deficient and SMARCA4-deficient Malignant Brain Tumors With Complex Copy Number Alterations and TP53 Mutations May Represent the First Clinical Manifestation of Li-Fraumeni Syndrome.
The American journal of surgical pathology | 2022-09-01 | PMID 35446794
Hasselblatt Martin, Thomas Christian, Federico Aniello and 23 more
A locus conferring tolerance to Theileria infection in African cattle.
PLoS genetics | 2022-04-01 | PMID 35446841
Wragg David, Cook Elizabeth A J, Latré de Laté Perle and 22 more
Host phenotype classification from human microbiome data is mainly driven by the presence of microbial taxa.
PLoS computational biology | 2022-04-01 | PMID 35446845
Giliberti Renato, Cavaliere Sara, Mauriello Italia Elisa and 2 more
Molecular typing and epidemiology profiles of human adenovirus infection among hospitalized patients with severe acute respiratory infection in Huzhou, China.
PloS one | 2022-01-01 | PMID 35446868
Xu Deshun, Chen Liping, Wu Xiaofang and 1 more
An in-silico study of the mutation-associated effects on the spike protein of SARS-CoV-2, Omicron variant.
PloS one | 2022-01-01 | PMID 35446879
Shishir Tushar Ahmed, Jannat Taslimun, Naser Iftekhar Bin
Development and evaluation of ActSeq: A targeted next-generation sequencing panel for clinical oncology use.
PloS one | 2022-01-01 | PMID 35446881
Shi Zonggao, Lopez Jacqueline, Kalliney William and 6 more
A real-time PCR method to genotype mutant mouse models with altered affinity for cardiotonic steroids on the Na,K-ATPase.
PloS one | 2022-01-01 | PMID 35446892
Chomczynski Peter W, Vires Kianna M, Rymaszewski Michal and 1 more
Th17 cell plasticity towards a T-bet-dependent Th1 phenotype is required for bacterial control in Staphylococcus aureus infection.
PLoS pathogens | 2022-04-01 | PMID 35446923
Bartsch Patricia, Kilian Christoph, Hellmig Malte and 20 more
Rates of Mutations and Transcript Errors in the Foodborne Pathogen Salmonella enterica subsp. enterica.
Molecular biology and evolution | 2022-04-10 | PMID 35446958
Pan Jiao, Li Weiyi, Ni Jiahao and 12 more
[Analysis of clinical phenotypes and ATP7B gene variants in 75 children patients with Wilson' s disease].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2022-04-10 | PMID 35446965
Liu Pan, Che Fengyu, Shu Chang and 2 more
[Genetic analysis of 21 cases of methylmalonic acidemia].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2022-04-10 | PMID 35446966
Wang Xing, Sun Xiaohong, Hao Shengju and 4 more
[Genetic analysis of a Chinese pedigree affected with branchiootic syndrome due to a nonsense variant of EYA1 gene].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2022-04-10 | PMID 35446969
Han Rui, Liu Xiaoran, Ye Erdengqieqieke and 5 more
[Analysis of RS1 gene variant in a Chinese pedigree affected with X-linked congenital retinal splitters].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2022-04-10 | PMID 35446970
Luo Ping, Liu Qiuyan, Xing Xuesha and 2 more
[Clinical and genetic analysis of two patients with CHARGE syndrome due to de novo variants of CHD7 gene].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2022-04-10 | PMID 35446972
Dong Yan, Shi Xiaoyi, Du Kaixian and 6 more
[Novel compound heterozygous SCN9A variations causing congenital insensitivity to pain in a patient].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2022-04-10 | PMID 35446973
Bai Ying, Sun Yue, Wu Jing and 5 more
[Analysis of a case with Xia-Gibbs syndrome due to variant of AHDC1 gene].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2022-04-10 | PMID 35446974
Fan Lijuan, Li Yang, Luo Huan and 4 more
[Diagnosis and counseling for a Chinese pedigree affected with autosomal recessive primary microcephaly 5 due to variants of ASPM gene].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2022-04-10 | PMID 35446976
Zhang Yan, Zeng Lina, Lin Li
[Clinical characteristics and genetic analysis of a neonate with Smith-Magenis syndrome].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2022-04-10 | PMID 35446977
Shu Heng, Ye Tongsheng, Liu Guanghui and 6 more
[Analysis of MVK gene variant in a child with high IgD syndrome caused by mevalonate kinase deficiency].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2022-04-10 | PMID 35446978
Wang Junchao, Wei Xingjia, Tao Zhenli
[Diagnosis of a child with mitochondrial myopathy and cerebellar atrophy with ataxia due to compound heterozygous variants of MSTO1 gene].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2022-04-10 | PMID 35446979
Tian Yang, Shi Zhen, Hou Chi and 4 more
[Analysis of IQSEC2 gene variant in a child with X-linked mental retardation].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2022-04-10 | PMID 35446980
Zhao Jianbo, Yang Xinying, Li Jiuwei and 3 more
[Analysis of ADNP gene variant in a child with Helsmoortel-van der Aa syndrome].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2022-04-10 | PMID 35446982
Ma Jian, Ma Haixia, Zhang Kaihui and 5 more
[Advance in research on genetic polymorphisms associated with athletic ability].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2022-04-10 | PMID 35446984
Dong Bonan, Zhang Tingting, Li Qiuyan and 1 more
Hereditary intraspinal schwannomatosis with SMARCB1 gene mutation: A case report.
Journal of clinical laboratory analysis | 2022-06-01 | PMID 35446994
Li Yu, Chen Lulu, Shao Dongqi and 4 more
atpE Mutation in Mycobacterium tuberculosis Not Always Predictive of Bedaquiline Treatment Failure.
Emerging infectious diseases | 2022-05-01 | PMID 35447056
Le Ray Laure Fournier, Aubry Alexandra, Sougakoff Wladimir and 5 more