Lv3
298 积分 2023-12-27 加入
Genetic overlap between ALS and other neurodegenerative or neuromuscular disorders
2天前
已完结
New insights into CC2D2A-related Joubert syndrome
3个月前
已关闭
Expression cloning of a cDNA for the major Fanconi anaemia gene, FAA
3个月前
已关闭
Characterization of Clinical and Laboratory Profiles of the Deletional α2-Globin Gene Polyadenylation Signal Sequence (AATAAA > AATA- -) in an Indian Population
3个月前
已完结
Clinical phenotypes and molecular characterization of Hb H-Paksé disease
3个月前
已关闭
Identification of a novel termination codon mutation (TAA-->TAT, Term-->Tyr) in the alpha 2 globin gene of a Laotian girl with hemoglobin H disease
3个月前
已关闭
Multigene Panel Testing for Hereditary Cancer and Genetic Counseling
4个月前
已关闭
[A novel keratin 17 gene mutation in a Chinese pedigree of delayed-onset pachyonychia congenita type II]
4个月前
已关闭
Spectrum and frequencies of extraocular features reported in CEP290-associated ciliopathy - A systematic review
6个月前
已关闭
Deep palmar phenotyping in atopic eczema: patterns associated with filaggrin variants, disease severity and barrier function in a South Asian population
9个月前
已完结
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