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Molecular Vision|October 25, 2008
Novel causative mutations in patients with Nance-Horan syndrome and altered localization of the mutant NHS-A protein isoformShiwani Sharma, Kathryn P Burdon, Alpana Dave, et al.
American Journal of Medical Genetics. Part A|August 5, 2010
Temple-Baraitser syndrome: a rare and possibly unrecognized conditionAdeline Jacquinet, Marion Gérard, Michael T Gabbett, et al.
European Journal of Pediatrics|July 26, 2020
Correction to: Berardinelli-Seip syndrome and achalasia: a shared pathomechanism?Rachel J van der Pol, Marc A Benninga, Jocelyne Magré, et al.
Frontiers in Pediatrics|June 14, 2019
Phenotypic Overlap of Roberts and Baller-Gerold Syndromes in Two Patients With Craniosynostosis, Limb Reductions, and ESCO2 MutationsElisa Adele Colombo, Hatice Mutlu-Albayrak, Yousef Shafeghati, et al.
Cells|February 25, 2022
MG132 Induces Progerin Clearance and Improves Disease Phenotypes in HGPS-like Patients' CellsKarim Harhouri, Pierre Cau, Frank Casey, et al.
Human Molecular Genetics|August 21, 2008
A position effect on TRPS1 is associated with Ambras syndrome in humans and the Koala phenotype in miceKatherine A Fantauzzo, Marija Tadin-Strapps, Yun You, et al.
European Journal of Human Genetics : EJHG|April 5, 2012
Van Maldergem syndrome: further characterisation and evidence for neuronal migration abnormalities and autosomal recessive inheritanceSahar Mansour, Marielle Swinkels, Paulien A Terhal, et al.
Human Mutation|April 2, 2009
GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotypeWilliam A Paznekas, Barbara Karczeski, Sascha Vermeer, et al.
Pediatric Research|December 6, 2005
Diagnostic value of immunostaining in cultured skin fibroblasts from patients with oxidative phosphorylation defectsBoel de Paepe, Joél Smet, Jules G Leroy, et al.
Human Molecular Genetics|October 23, 2021
Formation of keto-type ceramides in palmoplantar keratoderma based on biallelic KDSR mutations in patientsRobert Pilz, Lukáš Opálka, Adam Majcher, et al.
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