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Elise Schaefer

Showing results (11-20 of 102) with videos related to

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Journal of Medical Genetics|April 19, 2012
Exome sequencing identifies mutations in LZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet--Biedl syndrome with situs inversus and insertional polydactylyVincent Marion, Fanny Stutzmann, Marion Gérard, et al.
BMC Oral Health|July 3, 2025
Syndromic gingival fibromatosis associated with pathogenic variation in the voltage-gated potassium channel gene KCNH1: a case report and proposed treatment protocolNhat Minh Do, Pierre Klienkoff, Anne de Saint Martin, et al.
Forensic Science International. Genetics|March 22, 2024
Recurrent familial case of early childhood sudden death: Complex post mortem genetic investigationsLila Krebs-Drouot, Audrey Schalk, Elise Schaefer, et al.
American Journal of Medical Genetics. Part A|March 23, 2021
Pathogenic variants in KCNQ2 cause intellectual deficiency without epilepsy: Broadening the phenotypic spectrum of a potassium channelopathyLaura Mary, Elsa Nourisson, Claire Feger, et al.
Pediatric Research|November 14, 2018
Wide clinical spectrum in ALG8-CDG: clues from molecular findings suggest an explanation for a milder phenotype in the first-described patientSandrine Vuillaumier-Barrot, Manuel Schiff, Francesca Mattioli, et al.
JBMR Plus|October 5, 2018
Primary Osteoporosis in Young Adults: Genetic Basis and Identification of Novel Variants in Causal GenesCorinne Collet, Agnès Ostertag, Manon Ricquebourg, et al.
European Journal of Medical Genetics|July 19, 2015
Long term follow up of two independent patients with Schinzel-Giedion carrying SETBP1 mutationsYvan Herenger, Corinne Stoetzel, Elise Schaefer, 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.
Frontiers in Genetics|June 14, 2019
A New <i>SLC10A7</i> Homozygous Missense Mutation Responsible for a Milder Phenotype of Skeletal Dysplasia With Amelogenesis ImperfectaVirginie Laugel-Haushalter, Séverine Bär, Elise Schaefer, et al.
Journal of Medical Genetics|September 13, 2013
Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18)Sophie Scheidecker, Christelle Etard, Nathan W Pierce, et al.
Pageof 11

Showing results (11-20 of 102) with videos related to

Sort By:
Pageof 11
Journal of Medical Genetics|April 19, 2012
Exome sequencing identifies mutations in LZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet--Biedl syndrome with situs inversus and insertional polydactylyVincent Marion, Fanny Stutzmann, Marion Gérard, et al.
BMC Oral Health|July 3, 2025
Syndromic gingival fibromatosis associated with pathogenic variation in the voltage-gated potassium channel gene KCNH1: a case report and proposed treatment protocolNhat Minh Do, Pierre Klienkoff, Anne de Saint Martin, et al.
Forensic Science International. Genetics|March 22, 2024
Recurrent familial case of early childhood sudden death: Complex post mortem genetic investigationsLila Krebs-Drouot, Audrey Schalk, Elise Schaefer, et al.
American Journal of Medical Genetics. Part A|March 23, 2021
Pathogenic variants in KCNQ2 cause intellectual deficiency without epilepsy: Broadening the phenotypic spectrum of a potassium channelopathyLaura Mary, Elsa Nourisson, Claire Feger, et al.
Pediatric Research|November 14, 2018
Wide clinical spectrum in ALG8-CDG: clues from molecular findings suggest an explanation for a milder phenotype in the first-described patientSandrine Vuillaumier-Barrot, Manuel Schiff, Francesca Mattioli, et al.
JBMR Plus|October 5, 2018
Primary Osteoporosis in Young Adults: Genetic Basis and Identification of Novel Variants in Causal GenesCorinne Collet, Agnès Ostertag, Manon Ricquebourg, et al.
European Journal of Medical Genetics|July 19, 2015
Long term follow up of two independent patients with Schinzel-Giedion carrying SETBP1 mutationsYvan Herenger, Corinne Stoetzel, Elise Schaefer, 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.
Frontiers in Genetics|June 14, 2019
A New <i>SLC10A7</i> Homozygous Missense Mutation Responsible for a Milder Phenotype of Skeletal Dysplasia With Amelogenesis ImperfectaVirginie Laugel-Haushalter, Séverine Bär, Elise Schaefer, et al.
Journal of Medical Genetics|September 13, 2013
Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18)Sophie Scheidecker, Christelle Etard, Nathan W Pierce, et al.
Pageof 11