Results 41 to 50 of about 140,139 (75)

Genetic variants in <i>QRICH2</i> gene among Jordanians with sperm motility disorders. [PDF]

Libyan J Med
Alhnaity HM, Shraim AS, Abumsimir B, Hattab D, Ghazzy AM, Abdelhalim M, Abdel Majeed BA, Daoud E, Jarrar Y.   +8 more
europepmc   +1 more source

A novel c.1468 G > A GRN mutation causes frontotemporal dementia in a Chinese Han family. [PDF]

Eur J Med Res
Xia M, Gao C, Shang J, Li D, Yang A, Zang W, Zhang J.   +6 more
europepmc   +1 more source

Genotypic and Phenotypic Characteristics of Pediatric X-Adrenoleukodystrophy in a Chinese Cohort. [PDF]

Neuropsychiatr Dis Treat
Zhang Y, Shi X, Huang J, Wang C, Wu S, Tian G, Jia J, Chen Y.   +7 more
europepmc   +1 more source

Identification of a new allele of <i>catp-4</i>. [PDF]

MicroPubl Biol
Gurjar A, Krauchunas AR.
europepmc   +1 more source

Long-term follow-up of metatropic dysplasia caused by novel mutations in the TRPV4 gene: Case report and literature review. [PDF]

Medicine (Baltimore)
Liu Y, Dong Y, Xu J, Xia B, Hu W, Li X, Wang F, Zhao Y, Feng G.   +8 more
europepmc   +1 more source

SMARCA4-deficient undifferentiated carcinoma co-existing with primary endometrial gastric (or gastrointestinal) -type carcinoma: a case report. [PDF]

Front Oncol
Yang F, Fu H, Zheng X, Yang Y, Zhou Q, Liang Y, Zheng J, Lin J.   +7 more
europepmc   +1 more source

Role of voltage-gated chloride channels in epilepsy: current insights and future directions. [PDF]

Front Pharmacol
Ni MM, Sun JY, Li ZQ, Qiu JC, Wu CF.
europepmc   +1 more source

Functionally constrained human proteins are less prone to mutational instability from single amino acid substitutions. [PDF]

Nat Commun
May M, Chuah A, Lehmann N, Goodall L, Cho V, Andrews TD.   +5 more
europepmc   +1 more source

Clinical characteristics of hereditary spherocytosis with red blood cell membrane protein gene variants. [PDF]

Front Pediatr
Cheng J, Zhang L, Yao J, Zhao S, Jiang J.   +4 more
europepmc   +1 more source

Systemic thrombosis with prothrombin Belgrade mutation in a Chinese patient: A case report.

World J Clin Cases
Wu YF, Huang Y, Weng BH, Deng S, Pan LY, Li Z.   +5 more
europepmc   +1 more source