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The International Journal of Behavioral Nutrition and Physical Activity|May 6, 2025
Developing an implementation fidelity measure for a family healthy weight programCaitlin A Golden, Paul A Estabrooks, Kate A Heelan, et al.
European Journal of Human Genetics : EJHG|January 20, 2012
Identification of a novel in-frame de novo mutation in SPTAN1 in intellectual disability and pontocerebellar atrophyFadi F Hamdan, Hirotomo Saitsu, Kiyomi Nishiyama, et al.
American Journal of Medical Genetics. Part A|October 18, 2016
Intragenic CNVs for epigenetic regulatory genes in intellectual disability: Survey identifies pathogenic and benign single exon changesFarah R Zahir, Tracy Tucker, Sonia Mayo, et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|May 1, 1996
[Heart-lung transplantation and cystic fibrosis. Indications and results]A Haloun, P Despins, D Horeau, et al.
American Journal of Human Genetics|April 25, 2017
Dysfunction of the Cerebral Glucose Transporter SLC45A1 in Individuals with Intellectual Disability and EpilepsyMyriam Srour, Noriaki Shimokawa, Fadi F Hamdan, et al.
Progres En Urologie : Journal De L'Association Francaise D'Urologie Et De La Societe Francaise D'Urologie|January 18, 2015
[Imagery of treated prostate cancer]R Renard-Penna, L Michaud, L Cormier, et al.
American Journal of Medical Genetics. Part A|January 21, 2016
A de novo frameshift mutation in chromodomain helicase DNA-binding domain 8 (CHD8): A case report and literature reviewNancy Merner, Baudouin Forgeot d'Arc, Scott C Bell, et al.
European Journal of Human Genetics : EJHG|November 8, 2019
A variant of neonatal progeroid syndrome, or Wiedemann-Rautenstrauch syndrome, is associated with a nonsense variant in POLR3GLEliane Beauregard-Lacroix, Smrithi Salian, Hyunyun Kim, et al.
Clinical Genetics|March 19, 2013
Polymicrogyria with dysmorphic basal ganglia? Think tubulin!D Amrom, I Tanyalçin, H Verhelst, et al.
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