Results 101 to 110 of about 2,406,008 (205)

CUL1 variants cause severe neurodevelopmental disorders: Insights from human genetics and a zebrafish model of microcephaly

HGG Advances
Summary: Microcephaly is a neurodevelopmental anomaly characterized by reduced head circumference and impaired brain growth, often accompanied by intellectual disability (ID), developmental delays, and seizures.
Haoling Xu, Zhen Liu, Fadi F. Hamdan, Shengnan Wu, Mei He, Dan Wang, Hu Pan, Juanli Hu, Yiqiao Chen, Jacques L. Michaud, Berge A. Minassian, Jing Duan, Jianxiang Liao, Jinping Su, Sainan Hu, Yin Peng, Qinyong Ye, Li Chen   +17 more
doaj   +1 more source

The Future of Genetic Disease Studies: Assembling an Updated Multidisciplinary Toolbox

Frontiers in Cell and Developmental Biology, 2022
Swetha Ramadesikan, Jennifer Lee, Ruben Claudio Aguilar   +2 more
doaj   +1 more source

Gene-sized editing for the therapy of genetic diseases. [PDF]

Funct Integr Genomics
Padureanu T, Cocoș R, Matache IM, Bucur O.   +3 more
europepmc   +1 more source

Referral route: a determinant of inequity for children with undiagnosed genetic diseases? [PDF]

Front Genet
Tang Z, Mis EK, Lakhani SA.
europepmc   +1 more source

Services for Patients with Rare Genetic Diseases in Germany. [PDF]

J Community Genet
Schmidtke C, Kühnen P, Mai K, Mundlos C, Cepus JS, Heider N, Lipp T.   +6 more
europepmc   +1 more source

Ethical, Legal, and Social Issues in Genetic Testing for Complex Genetic Diseases [PDF]

, 2011
Andrews, Lori, Zuiker, Erin Shaugnessy
core   +2 more sources

Caregiver quality of life and burden in rare genetic diseases in South Korea. [PDF]

Medicine (Baltimore)
Choi S, Kim JH, Kim GH, Lee BH, Choi IH.
europepmc   +1 more source

Liver transplantation and portacaval shunt in genetic diseases [PDF]

, 1982
Starzl, TE
core  

Online education for rare genetic diseases: a systematic review. [PDF]

Orphanet J Rare Dis
Ozmizrak P, Boccuto L, Lowe TB, Trammel S, DeLuca J.   +4 more
europepmc   +1 more source

Cost analysis of hospitalized children suspected of rare genetic diseases. [PDF]

Orphanet J Rare Dis
Kouame JM, LaRue S, Varin-Tremblay C, Michaud JL, Laberge AM, Guertin JR.   +5 more
europepmc   +1 more source