نتائج البحث

IKZF1 and UBR4 gene variants drive autoimmunity and Th2 polarization in IgG4-related disease.

• Authors : Liu, Qingxiang; Zheng, Yanyan; Sturmlechner, Ines

Subjects: Autoimmunity; T cell receptor; Th2 response

• Source: The Journal of Clinical Investigation. 134(16)

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A Mitochondrial tRNA Mutation Causes Axonal CMT in a Large Venezuelan Family.

• Authors : Fay, Alexander; Garcia, Yngo; Margeta, Marta

Subjects: Humans; Charcot-Marie-Tooth Disease; RNA

• Source: Annals of neurology. 88(4)

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Experiences of family members supporting a relative with substance use problems: a qualitative study / Experiences of family members supporting a relative with substance use problems: a qualitative study

• Authors : McCann, Terence V; Polacsek, Meg; Lubman, Dan I

• Source: Scandinavian Journal of Caring Sciences. 33(4):902

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Insertion of an SVA element in MSH2 as a novel cause of Lynch syndrome.

• Authors : Yang, Ciyu; Li, Yirong; Trottier, Magan

Subjects: Lynch syndrome; MSH2; SVA

• Source: Genes Chromosomes and Cancer. 60(8)

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Autosomal dominant stapes fixation, syndactyly, and symphalangism in a family with NOG mutation:Long term follow-up on surgical treatment

• Authors : Westergaard-Nielsen, Marie; Amstrup, Tine; Wanscher, Jens Højberg

Subjects: Adolescent; Adult; Aged

• Source: Westergaard-Nielsen , M , Amstrup , T , Wanscher , J H , Brusgaard , K & Ousager , L B 2018 , ' Autosomal dominant stapes fixation, syndactyly, and symphalangism in a

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Experiences of family members supporting a relative with substance use problems: a qualitative study

• Authors : Dan I. Lubman; Terence V. McCann; Meg Polacsek

Subjects: Adult; Male; Substance-Related Disorders

• Source: Scandinavian Journal of Caring Sciences. 33:902-911

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Comparison of suspected Lynch syndrome patients carrying BRCA and BRCA‐like variants with Lynch syndrome probands: Phenotypic characteristics and pedigree analyses

• Authors : Zhimin Wang; Cong Li; Ye Xu

Subjects: 0301 basic medicine; Oncology; Proband

• Source: Molecular Genetics & Genomic Medicine, Vol 8, Iss 8, Pp n/a-n/a (2020)Molecular Genetics & Genomic Medicine

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A follow-up study of a Chinese family with Waardenburg syndrome type II caused by a truncating mutation of MITF gene

• Authors : Chengyong Zhou; Huijun Yuan; Dongyang Kang

Subjects: 0301 basic medicine; Adult; Male

• Source: Molecular Genetics & Genomic Medicine

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Targeted Next-Generation Sequencing Identifies Separate Causes of Hearing Loss in One Deaf Family and Variable Clinical Manifestations for the p.R161C Mutation in SOX10

• Authors : Hao Wu; Xiaoyu Yu; Yun Lin

Subjects: Adult; Male; Article Subject

• Source: Neural PlasticityNeural Plasticity, Vol 2020 (2020)

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Family-specific aggregation of lipid GWAS variants confers the susceptibility to familial hypercholesterolemia in a large Austrian family

• Authors : Nikkola, Elina; Ko, Arthur; Alvarez, Marcus

Subjects: Biomedical and Clinical Sciences; Cardiovascular Medicine and Haematology; Clinical Sciences

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