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Transplantation|September 16, 2003
Hepatocyte transplantation in a 4-year-old girl with peroxisomal biogenesis disease: technique, safety, and metabolic follow-upEtienne M Sokal, Françoise Smets, Annick Bourgois, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 8, 2014
Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndromeElise Schaefer, Corinne Collet, David Genevieve, et al.
Molecular Genetics & Genomic Medicine|September 28, 2021
Two new cases of interstitial 7q35q36.1 deletion including CNTNAP2 and KMT2CLucie Tosca, Loïc Drévillon, Aurélie Mouka, et al.
Molecular Autism|March 25, 2015
Autism spectrum disorder associated with low serotonin in CSF and mutations in the SLC29A4 plasma membrane monoamine transporter (PMAT) geneDea Adamsen, Vincent Ramaekers, Horace Tb Ho, et al.
European Journal of Medical Genetics|March 12, 2014
Neonatal progeroid variant of Marfan syndrome with congenital lipodystrophy results from mutations at the 3' end of FBN1 geneAdeline Jacquinet, Alain Verloes, Bert Callewaert, et al.
BMC Medical Genetics|February 26, 2011
Molecular and neurological characterizations of three Saudi families with lipoid proteinosisMustafa A Salih, Khaled K Abu-Amero, Saleh Alrasheed, et al.
American Journal of Medical Genetics. Part A|March 27, 2020
Congenital posterior cervical spine malformation due to biallelic c.240-4T>G RIPPLY2 variant: A discrete entityMargaux Serey-Gaut, Marcello Scala, Bruno Reversade, et al.
Human Genetics|September 27, 2003
Increased risk for developmental delay in Saethre-Chotzen syndrome is associated with TWIST deletions: an improved strategy for TWIST mutation screeningJuanliang Cai, Barbara K Goodman, Ankita S Patel, et al.
American Journal of Medical Genetics. Part A|June 7, 2016
Clinical features of SMARCA2 duplication overlap with Coffin-Siris syndromeNoriko Miyake, Ghada Abdel-Salam, Takanori Yamagata, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|May 6, 2020
The GRIA3 c.2477G > A Variant Causes an Exaggerated Startle Reflex, Chorea, and Multifocal MyoclonusJuliette Piard, Matthieu Béreau, Wenshu XiangWei, et al.
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