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European Journal of Human Genetics : EJHG|March 4, 2011
TSEN54 mutations cause pontocerebellar hypoplasia type 5Yasmin Namavar, David Chitayat, Peter G Barth, et al.
Clinical Genetics|February 25, 2021
Heterozygous NOTCH1 deletion associated with variable congenital heart defectsMaian Roifman, Brian Hon Yin Chung, Diane Myles Reid, et al.
Systems Biology in Reproductive Medicine|September 24, 2014
PGD for a carrier of an intrachromosomal insertion using aCGHClaire Ann Jones, Elena Kolomietz, Georges Maire, et al.
Molecular Genetics and Metabolism|December 26, 2012
Mitochondrial citrate synthase crystals: novel finding in Sengers syndrome caused by acylglycerol kinase (AGK) mutationsKomudi Siriwardena, Nevena Mackay, Valeriy Levandovskiy, et al.
Epigenetics|April 9, 2011
WNT2 promoter methylation in human placenta is associated with low birthweight percentile in the neonateJose C Ferreira, Sanaa Choufani, Daria Grafodatskaya, et al.
American Journal of Medical Genetics. Part A|August 25, 2004
Abnormal pericyte recruitment as a cause for pulmonary hypertension in Adams-Oliver syndromeMillan S Patel, Glenn P Taylor, Simi Bharya, et al.
The American Journal of Pathology|July 23, 2013
Fetal reprogramming and senescence in hypoplastic left heart syndrome and in human pluripotent stem cells during cardiac differentiationNaila Gaber, Mark Gagliardi, Pranali Patel, et al.
Bipolar Disorders|July 3, 2026
Risk of Major Malformations Following First-Trimester Exposure to Cariprazine: Preliminary Data From the MGH National Pregnancy Registry for Psychiatric MedicationsAdele C Viguera, Marlene P Freeman, Ella K Slaby, et al.
Molecular Genetics and Metabolism|July 15, 2009
Substrate reduction therapy in juvenile GM2 gangliosidosisGustavo H B Maegawa, Brenda L Banwell, Susan Blaser, et al.
The Laryngoscope|August 7, 2012
Ossicular fusion and cholesteatoma in auriculo-condylar syndrome: in vivo evidence of arrest of embryogenesisEvan J Propst, Bo Y Ngan, Richard J Mount, et al.
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