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L Faivre

Showing results (21-30 of 131) with videos related to

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Clinical Genetics|November 11, 2014
Intrafamilial variability of ZRS-associated syndrome: characterization of a mosaic ZRS mutation by pyrosequencingC Vanlerberghe, L Faivre, F Petit, et al.
American Journal of Medical Genetics. Part A|November 19, 2009
Vertebral defects as an unusual mode of presentation of 22q11.2 deletionL Faivre, A Masurel-Paulet, P Callier, et al.
Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology|June 25, 2021
Clinical and molecular data in cases of prenatal localized overgrowth disorder: major implication of genetic variants in PI3K-AKT-mTOR signaling pathwayN Bourgon, V Carmignac, A Sorlin, et al.
American Journal of Medical Genetics. Part A|August 8, 2006
Major feeding difficulties in the first reported case of interstitial 20q11.22-q12 microdeletion and molecular cytogenetic characterizationP Callier, L Faivre, N Marle, et al.
Clinical Dysmorphology|January 11, 2001
Hypertelorism-Microtia-Clefting syndrome (Bixler syndrome): report of two unrelated casesJ Amiel, L Faivre, R Marianowskl, et al.
Human Genetics|January 26, 2002
Phenotypic variability at the TGF-beta1 locus in Camurati-Engelmann diseaseB Campos-Xavier, J M Saraiva, R Savarirayan, et al.
Prenatal Diagnosis|March 28, 2007
Syndromic encephalocele in a fetal case with a 1p35-pter deletion and a 14q32-qter duplication inherited from a maternal balanced translocationC Thauvin-Robinet, P Callier, N Laurent, et al.
Clinical Dysmorphology|October 23, 2001
Absent lacrimal ducts, distichiasis, dysmorphic features, and brachydactyly: a case reportM Holder-Espinasse, M C de Blois, L Faivre, et al.
The British Journal of Dermatology|January 20, 2005
X-linked recessive ichthyosis in a girl: strategy for identifying the causal mechanismC Thauvin-Robinet, D Lambert, G Vaillant, et al.
Prenatal Diagnosis|April 21, 1999
Prenatal diagnosis of a satellited non-acrocentric chromosome derived from a maternal translocation (10;13)(p13;p12) and review of literatureL Faivre, N Morichon-Delvallez, G Viot, et al.
Pageof 14

Showing results (21-30 of 131) with videos related to

Sort By:
Pageof 14
Clinical Genetics|November 11, 2014
Intrafamilial variability of ZRS-associated syndrome: characterization of a mosaic ZRS mutation by pyrosequencingC Vanlerberghe, L Faivre, F Petit, et al.
American Journal of Medical Genetics. Part A|November 19, 2009
Vertebral defects as an unusual mode of presentation of 22q11.2 deletionL Faivre, A Masurel-Paulet, P Callier, et al.
Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology|June 25, 2021
Clinical and molecular data in cases of prenatal localized overgrowth disorder: major implication of genetic variants in PI3K-AKT-mTOR signaling pathwayN Bourgon, V Carmignac, A Sorlin, et al.
American Journal of Medical Genetics. Part A|August 8, 2006
Major feeding difficulties in the first reported case of interstitial 20q11.22-q12 microdeletion and molecular cytogenetic characterizationP Callier, L Faivre, N Marle, et al.
Clinical Dysmorphology|January 11, 2001
Hypertelorism-Microtia-Clefting syndrome (Bixler syndrome): report of two unrelated casesJ Amiel, L Faivre, R Marianowskl, et al.
Human Genetics|January 26, 2002
Phenotypic variability at the TGF-beta1 locus in Camurati-Engelmann diseaseB Campos-Xavier, J M Saraiva, R Savarirayan, et al.
Prenatal Diagnosis|March 28, 2007
Syndromic encephalocele in a fetal case with a 1p35-pter deletion and a 14q32-qter duplication inherited from a maternal balanced translocationC Thauvin-Robinet, P Callier, N Laurent, et al.
Clinical Dysmorphology|October 23, 2001
Absent lacrimal ducts, distichiasis, dysmorphic features, and brachydactyly: a case reportM Holder-Espinasse, M C de Blois, L Faivre, et al.
The British Journal of Dermatology|January 20, 2005
X-linked recessive ichthyosis in a girl: strategy for identifying the causal mechanismC Thauvin-Robinet, D Lambert, G Vaillant, et al.
Prenatal Diagnosis|April 21, 1999
Prenatal diagnosis of a satellited non-acrocentric chromosome derived from a maternal translocation (10;13)(p13;p12) and review of literatureL Faivre, N Morichon-Delvallez, G Viot, et al.
Pageof 14