LONGITUDINAL STUDY OF RPE65-ASSOCIATED INHERITED RETINAL DEGENERATIONS.
Retina (Philadelphia, Pa.) | 2020-09-01 | PMID 32032261
Pierrache Laurence H M, Ghafaryasl Babak, Khan Muhammad I and 11 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 8041 of 10600
Inverse Association Between the Quantity of Human Peripheral Blood CXCR5+IFN-γ+CD8+ T Cells With De Novo DSA Production in the First Year After Kidney Transplant.
Transplantation | 2020-11-01 | PMID 32032292
Zimmerer Jason M, Basinger Matthew W, Ringwald Bryce A and 7 more
The effect of assessing genetic risk of prostate cancer on the use of PSA tests in primary care: A cluster randomized controlled trial.
PLoS medicine | 2020-02-01 | PMID 32032355
Fredsøe Jacob, Koetsenruyter Jan, Vedsted Peter and 6 more
On the usefulness of parental lines GWAS for predicting low heritability traits in tropical maize hybrids.
PloS one | 2020-01-01 | PMID 32032385
Galli Giovanni, Alves Filipe Couto, Morosini Júlia Silva and 1 more
Circulating mucosal-associated invariant T cells in subjects with recurrent urinary tract infections are functionally impaired.
Immunity, inflammation and disease | 2020-03-01 | PMID 32032475
Terpstra Matty L, Remmerswaal Ester B M, van Aalderen Michiel C and 5 more
Modifier genes in SCN1A-related epilepsy syndromes.
Molecular genetics & genomic medicine | 2020-04-01 | PMID 32032478
de Lange Iris M, Mulder Flip, van 't Slot Ruben and 7 more
Structural Elucidation of Peptide Binding to KLHL-12, a Substrate Specific Adapter Protein in a Cul3-Ring E3 Ligase Complex.
Biochemistry | 2020-03-03 | PMID 32032490
Zhao Bin, Payne William G, Sai Jiqing and 3 more
Enhancer Domains Predict Gene Pathogenicity and Inform Gene Discovery in Complex Disease.
American journal of human genetics | 2020-02-06 | PMID 32032514
Wang Xinchen, Goldstein David B
iPSC-Derived Endothelial Cells Affect Vascular Function in a Tissue-Engineered Blood Vessel Model of Hutchinson-Gilford Progeria Syndrome.
Stem cell reports | 2020-02-11 | PMID 32032552
Atchison Leigh, Abutaleb Nadia O, Snyder-Mounts Elizabeth and 5 more
Variability in β-catenin pulse dynamics in a stochastic cell fate decision in C. elegans.
Developmental biology | 2020-05-15 | PMID 32032579
Kroll Jason R, Tsiaxiras Jasonas, van Zon Jeroen S
Theileria parva: a parasite of African buffalo, which has adapted to infect and undergo transmission in cattle.
International journal for parasitology | 2020-05-01 | PMID 32032592
Morrison W Ivan, Hemmink Johanneke D, Toye Philip G
Glucocorticoid receptor is required for survival through metamorphosis in the frog Xenopus tropicalis.
General and comparative endocrinology | 2020-05-15 | PMID 32032606
Sterner Zachary R, Shewade Leena H, Mertz Kala M and 2 more
The pathogenicity of SLC38A8 in five families with foveal hypoplasia and congenital nystagmus.
Experimental eye research | 2020-04-01 | PMID 32032626
Weiner Chen, Hecht Idan, Rotenstreich Ygal and 6 more
Genetics of syndromic ocular coloboma: CHARGE and COACH syndromes.
Experimental eye research | 2020-04-01 | PMID 32032630
George Aman, Cogliati Tiziana, Brooks Brian P
Dual biomarkers long non-coding RNA GAS5 and its target, NR3C1, contribute to acute myeloid leukemia.
Experimental and molecular pathology | 2020-06-01 | PMID 32032633
Ketab Fereshteh Nasiri Ganjineh, Gharesouran Jalal, Ghafouri-Fard Soudeh and 9 more
In pursuit of the framework behind the biosphere: S-curves, self-assembly and the genetic entropy paradox.
Bio Systems | 2020-04-01 | PMID 32032649
Skene Keith R
Vitamin D and Kidney Stones.
Urology | 2020-05-01 | PMID 32032687
Schulster Michael L, Goldfarb David S
Novel presenilin 1 and 2 double knock-out cell line for in vitro validation of PSEN1 and PSEN2 mutations.
Neurobiology of disease | 2020-05-01 | PMID 32032730
Pimenova Anna A, Goate Alison M
Dysregulated iron metabolism in C. elegans catp-6/ATP13A2 mutant impairs mitochondrial function.
Neurobiology of disease | 2020-06-01 | PMID 32032734
Anand Nikhita, Holcom Angelina, Broussalian Michael and 5 more
Novel CpG-SNPs in the gastric acid secretion pathway GNAI3 and susceptibility to gastric cancer.
Gene | 2020-04-30 | PMID 32032744
Liu Mengting, Li Shuwei, Du Mulong and 3 more
Mutations in growth hormone gene affect stability of protein structure leading to reduced growth, reproduction, and milk production in crossbred cattle-an insight.
Domestic animal endocrinology | 2020-04-01 | PMID 32032890
Pal A, Pal A, Chakravarty A K
CDK4/RB/E2Fs axis as potential therapeutic target of endometrial cancer.
Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie | 2020-05-01 | PMID 32032891
Hu Jing, Shen Junwei, Sun Jing
Forensic validation of a SNP and INDEL panel for individualisation of timber from bigleaf maple (Acer macrophyllum Pursch).
Forensic science international. Genetics | 2020-05-01 | PMID 32032910
Dormontt E E, Jardine D I, van Dijk K-J and 6 more
Much More Than a Scaffold: Cytoskeletal Proteins in Neurological Disorders.
Cells | 2020-02-04 | PMID 32033020
Muñoz-Lasso Diana C, Romá-Mateo Carlos, Pallardó Federico V and 1 more
Structural Features of Nucleoprotein CST/Shelterin Complex Involved in the Telomere Maintenance and Its Association with Disease Mutations.
Cells | 2020-02-04 | PMID 32033110
Amir Mohd, Khan Parvez, Queen Aarfa and 6 more
Human-Induced Neurons from Presenilin 1 Mutant Patients Model Aspects of Alzheimer's Disease Pathology.
International journal of molecular sciences | 2020-02-04 | PMID 32033164
Schrank Sean, McDaid John, Briggs Clark A and 7 more
High-Resolution Mapping in Two RIL Populations Refines Major "QTL Hotspot" Regions for Seed Size and Shape in Soybean (Glycine max L.).
International journal of molecular sciences | 2020-02-04 | PMID 32033213
Hina Aiman, Cao Yongce, Song Shiyu and 5 more
Whole Genome Sequencing Indicates Heterogeneity of Hyperostotic Disorders in Dogs.
Genes | 2020-02-04 | PMID 32033218
Letko Anna, Leuthard Fabienne, Jagannathan Vidhya and 7 more
Evaluating Face2Gene as a Tool to Identify Cornelia de Lange Syndrome by Facial Phenotypes.
International journal of molecular sciences | 2020-02-04 | PMID 32033219
Latorre-Pellicer Ana, Ascaso Ángela, Trujillano Laura and 13 more
Taste Changes in Patients with Inflammatory Bowel Disease: Associations with PROP Phenotypes and polymorphisms in the salivary protein, Gustin and CD36 Receptor Genes.
Nutrients | 2020-02-04 | PMID 32033224
Melis Melania, Mastinu Mariano, Sollai Giorgia and 7 more
Candidate SNP Markers of Atherogenesis Significantly Shifting the Affinity of TATA-Binding Protein for Human Gene Promoters show stabilizing Natural Selection as a Sum of Neutral Drift Accelerating Atherogenesis and Directional Natural Selection Slowing It.
International journal of molecular sciences | 2020-02-05 | PMID 32033288
Ponomarenko Mikhail, Rasskazov Dmitry, Chadaeva Irina and 8 more
Rare Breast Carcinoma with Paradoxical Plasma Cell Immunoprofile: A Case Report.
Medicina (Kaunas, Lithuania) | 2020-02-05 | PMID 32033289
Grădinaru Eugen Sebastian, Stoicea Mihai-Ciprian, Mocanu Liliana and 3 more
Comprehensive Investigation of Moringa oleifera from Different Regions by Simultaneous Determination of 11 Polyphenols Using UPLC-ESI-MS/MS.
Molecules (Basel, Switzerland) | 2020-02-05 | PMID 32033309
Zhu Yanqin, Yin Qinhong, Yang Yaling
Different Patterns of Left Ventricular Hypertrophy in Metabolically Healthy and Insulin-Resistant Obese Subjects.
Nutrients | 2020-02-05 | PMID 32033349
Sciacqua Angela, Cimellaro Antonio, Mancuso Luana and 8 more
The Kinetics of Amyloid Fibril Formation by de Novo Protein Albebetin and Its Mutant Variants.
Biomolecules | 2020-02-05 | PMID 32033353
Balobanov Vitalii, Chertkova Rita, Egorova Anna and 3 more
A Fast and Scalable Workflow for SNPs Detection in Genome Sequences Using Hadoop Map-Reduce.
Genes | 2020-02-05 | PMID 32033366
Tahir Muhammad, Sardaraz Muhammad
Norovirus Seroprevalence among Adults in the United States: Analysis of NHANES Serum Specimens from 1999-2000 and 2003-2004.
Viruses | 2020-02-05 | PMID 32033378
Kirby Amy E, Kienast Yvonne, Zhu Wanzhe and 5 more
Genetic and Biological Diversity of Porcine Sapeloviruses Prevailing in Zambia.
Viruses | 2020-02-05 | PMID 32033383
Harima Hayato, Kajihara Masahiro, Simulundu Edgar and 10 more
Interaction between Sex and LDLR rs688 Polymorphism on Hyperlipidemia among Taiwan Biobank Adult Participants.
Biomolecules | 2020-02-05 | PMID 32033407
Liu Yin-Tso, Nfor Oswald Ndi, Wang Lee and 6 more
The LCORL Locus is under Selection in Large-Sized Pakistani Goat Breeds.
Genes | 2020-02-05 | PMID 32033434
Saif Rashid, Henkel Jan, Jagannathan Vidhya and 3 more
Fibroblasts from the Human Skin Dermo-Hypodermal Junction are Distinct from Dermal Papillary and Reticular Fibroblasts and from Mesenchymal Stem Cells and Exhibit a Specific Molecular Profile Related to Extracellular Matrix Organization and Modeling.
Cells | 2020-02-05 | PMID 32033496
Haydont Valérie, Neiveyans Véronique, Perez Philippe and 4 more
Management of chronic wasting disease in ranched elk: conclusions from a longitudinal three-year study.
Prion | 2020-12-01 | PMID 32033521
Haley N J, Henderson D M, Donner R and 8 more
RNA-Seq reveals differential expression profiles and functional annotation of genes involved in retinal degeneration in Pde6c mutant Danio rerio.
BMC genomics | 2020-02-07 | PMID 32033529
Saddala Madhu Sudhana, Lennikov Anton, Bouras Adam and 1 more
pCADD: SNV prioritisation in Sus scrofa.
Genetics, selection, evolution : GSE | 2020-02-07 | PMID 32033531
Groß Christian, Derks Martijn, Megens Hendrik-Jan and 4 more
Are scurs in heterozygous polled (Pp) cattle a complex quantitative trait?
Genetics, selection, evolution : GSE | 2020-02-07 | PMID 32033534
Gehrke Lilian Johanna, Capitan Aurélien, Scheper Carsten and 8 more
The effects and interaction of soybean maturity gene alleles controlling flowering time, maturity, and adaptation in tropical environments.
BMC plant biology | 2020-02-07 | PMID 32033536
Miranda Carrie, Scaboo Andrew, Cober Elroy and 2 more
Epistatic regulation of growth in Atlantic salmon revealed: a QTL study performed on the domesticated-wild interface.
BMC genetics | 2020-02-07 | PMID 32033538
Besnier Francois, Solberg Monica F, Harvey Alison C and 9 more
HIV-1 subtype C predicted co-receptor tropism in Africa: an individual sequence level meta-analysis.
AIDS research and therapy | 2020-02-07 | PMID 32033571
Matume Nontokozo D, Tebit Denis M, Bessong Pascal O
SERT and BDNF polymorphisms interplay on neuroticism in borderline personality disorder.
BMC research notes | 2020-02-07 | PMID 32033618
Salinas Valeria, Villarroel Juana, Silva Hernán and 6 more
Female psychopathy: A descriptive national study of socially dangerous female NGRI offenders.
International journal of law and psychiatry | 2000-01-01 | PMID 32033688
Carabellese Felice, Felthous Alan R, Tegola Donatella La and 4 more
Imaging Features of Triple Negative Breast Cancer and the Effect of BRCA Mutations.
Current problems in diagnostic radiology | 2000-01-01 | PMID 32033821
Karbasian Niloofar, Sohrabi Sahand, Omofoye Toma S and 6 more
Cardiovascular Magnetic Resonance Imaging of Inherited Heart Conditions.
Heart, lung & circulation | 2020-04-01 | PMID 32033894
Dennis Mark, Ugander Martin, Kozor Rebecca and 1 more
COL4A1 Mutation as a Cause of Familial Recurrent Intracerebral Hemorrhage.
Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association | 2020-04-01 | PMID 32033901
Campo-Caballero David, Rodriguez-Antigüedad Jon, Ekiza-Bazan Jon and 8 more
The polygenic nature of mild-to-moderate hypertriglyceridemia.
Journal of clinical lipidology | 2000-01-01 | PMID 32033914
Dron Jacqueline S, Wang Jian, McIntyre Adam D and 2 more
Polygenic Risk Score-Derived Subcortical Connectivity Mediates Attention-Deficit/Hyperactivity Disorder Diagnosis.
Biological psychiatry. Cognitive neuroscience and neuroimaging | 2020-03-01 | PMID 32033925
Hermosillo Robert J M, Mooney Michael A, Fezcko Eric and 9 more
Arx expansion mutation perturbs cortical development by augmenting apoptosis without activating innate immunity in a mouse model of X-linked infantile spasms syndrome.
Disease models & mechanisms | 2020-03-30 | PMID 32033960
Siehr Meagan S, Massey Cory A, Noebels Jeffrey L
Tubulin-binding cofactor E-like (TBCEL), the protein product of the mulet gene, is required in the germline for the regulation of inter-flagellar microtubule dynamics during spermatid individualization.
Biology open | 2020-02-26 | PMID 32033965
Fabrizio James J, Rollins Janet, Bazinet Christopher W and 20 more
Epigenetic Link Between Statin Therapy and Type 2 Diabetes.
Diabetes care | 2020-04-01 | PMID 32033992
Ochoa-Rosales Carolina, Portilla-Fernandez Eliana, Nano Jana and 29 more
DREB1A/CBF3 Is Repressed by Transgene-Induced DNA Methylation in the Arabidopsis ice1 -1 Mutant.
The Plant cell | 2020-04-01 | PMID 32034036
Kidokoro Satoshi, Kim June-Sik, Ishikawa Tomona and 3 more
Genome editing approaches to augment livestock breeding programs.
The Journal of experimental biology | 2020-02-07 | PMID 32034040
Bishop Thomas Frederick, Van Eenennaam Alison Louise
The coding loci of evolution and domestication: current knowledge and implications for bio-inspired genome editing.
The Journal of experimental biology | 2020-02-07 | PMID 32034045
Courtier-Orgogozo Virginie, Martin Arnaud
Studying convergent evolution to relate genotype to behavioral phenotype.
The Journal of experimental biology | 2020-02-07 | PMID 32034050
Gallant Jason R, O'Connell Lauren A
Integrated characterisation of cancer genes identifies key molecular biomarkers in stomach adenocarcinoma.
Journal of clinical pathology | 2020-09-01 | PMID 32034058
Wang Haifeng, Shen Liyijing, Li Yaoqing and 1 more
Molecular Mechanisms of Acquired Resistance to MET Tyrosine Kinase Inhibitors in Patients with MET Exon 14-Mutant NSCLC.
Clinical cancer research : an official journal of the American Association for Cancer Research | 2020-06-01 | PMID 32034073
Recondo Gonzalo, Bahcall Magda, Spurr Liam F and 20 more
Routine Plasma-Based Genotyping to Comprehensively Detect Germline, Somatic, and Reversion BRCA Mutations among Patients with Advanced Solid Tumors.
Clinical cancer research : an official journal of the American Association for Cancer Research | 2020-06-01 | PMID 32034076
Vidula Neelima, Rich Thereasa A, Sartor Oliver and 18 more
Use of Ex Vivo Patient-Derived Tumor Organotypic Spheroids to Identify Combination Therapies for HER2 Mutant Non-Small Cell Lung Cancer.
Clinical cancer research : an official journal of the American Association for Cancer Research | 2020-05-15 | PMID 32034078
Ivanova Elena, Kuraguchi Mari, Xu Man and 19 more
Generation and validation of a PITX2-EGFP reporter line of human induced pluripotent stem cells enables isolation of periocular mesenchymal cells.
The Journal of biological chemistry | 2020-03-13 | PMID 32034090
Okubo Toru, Hayashi Ryuhei, Shibata Shun and 8 more
Global gene flow releases invasive plants from environmental constraints on genetic diversity.
Proceedings of the National Academy of Sciences of the United States of America | 2020-02-25 | PMID 32034102
Smith Annabel L, Hodkinson Trevor R, Villellas Jesus and 45 more
Pten-mediated Gsk3β modulates the naïve pluripotency maintenance in embryonic stem cells.
Cell death & disease | 2020-02-07 | PMID 32034125
Wang Wuming, Lu Gang, Su Xianwei and 11 more
Increased circulating levels of Factor H-Related Protein 4 are strongly associated with age-related macular degeneration.
Nature communications | 2020-02-07 | PMID 32034129
Cipriani Valentina, Lorés-Motta Laura, He Fan and 14 more
Revisiting the pH-gated conformational switch on the activities of HisKA-family histidine kinases.
Nature communications | 2020-02-07 | PMID 32034139
Mideros-Mora Cristina, Miguel-Romero Laura, Felipe-Ruiz Alonso and 2 more
APOBEC3B-mediated corruption of the tumor cell immunopeptidome induces heteroclitic neoepitopes for cancer immunotherapy.
Nature communications | 2020-02-07 | PMID 32034147
Driscoll Christopher B, Schuelke Matthew R, Kottke Timothy and 17 more
Exome sequencing revealed DNA variants in NCOR1, IGF2BP1, SGLT2 and NEK11 as potential novel causes of ketotic hypoglycemia in children.
Scientific reports | 2020-02-07 | PMID 32034166
Alhaidan Yazeid, Larsen Martin J, Schou Anders Jørgen and 4 more
Validation of a novel and accurate ApoE4 assay for automated chemistry analyzers.
Scientific reports | 2020-02-07 | PMID 32034174
Veiga Sergio, Rodríguez-Martín Andrés, Garcia-Ribas Guillermo and 3 more
COMT-Polymorphisms Modulated Functional Profile of the Fusiform Face Area Contributes to Face-Specific Recognition Ability.
Scientific reports | 2020-02-07 | PMID 32034175
Wu Chao, Zhen Zonglei, Huang Lijie and 2 more
Large-for-gestational-age phenotypes and obesity risk in adulthood: a study of 195,936 women.
Scientific reports | 2020-02-07 | PMID 32034195
Derraik José G B, Maessen Sarah E, Gibbins John D and 3 more
Validating a targeted next-generation sequencing assay and profiling somatic variants in Chinese non-small cell lung cancer patients.
Scientific reports | 2020-02-07 | PMID 32034196
Jiang Ruirui, Zhang Bo, Teng Xiaodong and 6 more
Improvement in predicting drug sensitivity changes associated with protein mutations using a molecular dynamics based alchemical mutation method.
Scientific reports | 2020-02-07 | PMID 32034220
Ono Fumie, Chiba Shuntaro, Isaka Yuta and 5 more
Quantifying Hematopoietic Stem Cell Clonal Diversity by Selecting Informative Amplicon Barcodes.
Scientific reports | 2020-02-07 | PMID 32034234
Teets Emily M, Gregory Charles, Shaffer Jami and 2 more
Genome-wide and SNP network analyses reveal genetic control of spikelet sterility and yield-related traits in wheat.
Scientific reports | 2020-02-07 | PMID 32034248
Alqudah Ahmad M, Haile Jemanesh K, Alomari Dalia Z and 3 more
Post-mortem Plasma Cell-Free DNA Sequencing: Proof-of-Concept Study for the "Liquid Autopsy".
Scientific reports | 2020-02-07 | PMID 32034265
Takai Erina, Maeda Daichi, Li Zhuo and 17 more
Mutant GTF2I induces cell transformation and metabolic alterations in thymic epithelial cells.
Cell death and differentiation | 2020-07-01 | PMID 32034314
Kim In-Kyu, Rao Guanhua, Zhao Xiaoliang and 5 more
Detection of Variants With Reduced Baloxavir Marboxil Susceptibility After Treatment of Children With Influenza A During the 2018-2019 Influenza Season.
The Journal of infectious diseases | 2020-06-16 | PMID 32034420
Sato Masatoki, Takashita Emi, Katayose Masahiko and 4 more
The forkhead box containing transcription factor FoxB is a potential component of dorsal-ventral body axis formation in the spider Parasteatoda tepidariorum.
Development genes and evolution | 2020-03-01 | PMID 32034484
Heingård Miriam, Janssen Ralf
Association of combined genetic variations in SOD3, GPX3, PON1, and GSTT1 with hypertension and severity of coronary artery disease.
Heart and vessels | 2020-07-01 | PMID 32034489
Decharatchakul Nisa, Settasatian Chatri, Settasatian Nongnuch and 5 more
Expanding the phenotype of hypomaturation amelogenesis imperfecta due to a novel SLC24A4 variant.
Clinical oral investigations | 2020-10-01 | PMID 32034543
Lepperdinger Ulrike, Maurer Elisabeth, Witsch-Baumgartner Martina and 4 more
First genomic microsatellite markers developed for Platonia insignis (Clusiaceae), a Brazilian fruit tree.
Molecular biology reports | 2020-04-01 | PMID 32034625
Paraense Luany Caroline Ribeiro, Pena Dayane Nascimento, Darnet Sylvain Henri and 3 more
Comparative analysis of chromosome 2A molecular organization in diploid and hexaploid wheat.
Molecular biology reports | 2020-03-01 | PMID 32034627
Kaur Parampreet, Jindal Suruchi, Yadav Bharat and 14 more
Gene-mating dynamic evolution theory: fundamental assumptions, exactly solvable models and analytic solutions.
Theory in biosciences = Theorie in den Biowissenschaften | 2020-06-01 | PMID 32034628
Wang Juven C, Chen Jiunn-Wei
Protein Thermodynamic Destabilization in the Assessment of Pathogenicity of a Variant of Uncertain Significance in Cardiac Myosin Binding Protein C.
Journal of cardiovascular translational research | 2020-10-01 | PMID 32034629
Pricolo Maria Rosaria, Herrero-Galán Elías, Mazzaccara Cristina and 3 more
MicroRNA-205-5p Promotes Unstable Atherosclerotic Plaque Formation In Vivo.
Cardiovascular drugs and therapy | 2020-02-01 | PMID 32034643
Meng Xiandong, Yin Jianjiao, Yu Xinli and 1 more
Germline Mutations in Familial Papillary Thyroid Cancer.
Endocrine pathology | 2020-03-01 | PMID 32034658
Sarquis Marta, Moraes Debora C, Bastos-Rodrigues Luciana and 7 more
Current Approaches to Transplantation for FLT3-ITD AML.
Current hematologic malignancy reports | 2020-02-01 | PMID 32034660
Hunter Bradley D, Chen Yi-Bin
[Genetic testing and prenatal diagnosis in seven pedigrees affected with ornithine transcarbamylase deficiency].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2020-02-10 | PMID 32034732
Liu Ning, Feng Yin, Jiang Miao and 1 more
[Analysis of ASXL1 gene variant in patients with myelodysplastic syndrome].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2020-02-10 | PMID 32034733
Chen Meiyu, Liu Jie, Chao Hongying and 8 more
[Analysis of COL1A1 gene variants in five Chinese pedigrees affected with osteogenesis imperfecta].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2020-02-10 | PMID 32034735
Jiao Zhihui, Zheng Lili, Kong Xiangdong
[Genetic analysis of a child with Sotos syndrome].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2020-02-10 | PMID 32034736
Luo Yuqin, Sun Yixi, Qian Yeqing and 4 more
[Identification of a c.1A>G initial codon variation of ARX gene in a child with severe mental retardation].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2020-02-10 | PMID 32034737
Shen Xueping, Qi Fengfeng, Gu Chunjian
[Analysis of pathogenic gene variant in a patient with neonatal Donohue syndrome].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2020-02-10 | PMID 32034740
Liu Fang, Guo Li, Liang Rujia and 1 more
[Clinical and genetic analysis of a case with Nicolaides-Baraitser syndrome].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2020-02-10 | PMID 32034741
Ma Yanyan, Yu Chunmei, Zhang Kaihui and 5 more