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Showing results (211-220 of 223) with videos related to

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American Journal of Medical Genetics|April 29, 1998
CHARGE syndrome: report of 47 cases and reviewA L Tellier, V Cormier-Daire, V Abadie, et al.
Nature Genetics|January 1, 1997
Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene familyQ Y Li, R A Newbury-Ecob, J A Terrett, et al.
Molecular Genetics & Genomic Medicine|April 2, 2014
High frequency of exon 15 deletion in the FANCA gene in Tunisian patients affected with Fanconi anemia disease: implication for diagnosisAhlem Amouri, Faten Talmoudi, Olfa Messaoud, et al.
International Journal of Pediatric Otorhinolaryngology|June 19, 2023
Audiological phenotyping evaluation in KBG syndrome: Description of a multicenter reviewL Rhamati, A Marcolla, A M Guerrot, et al.
American Journal of Human Genetics|October 24, 2001
Survival of male patients with incontinentia pigmenti carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndromeS Kenwrick, H Woffendin, T Jakins, et al.
Clinical Genetics|October 6, 2012
OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairmentC Thauvin-Robinet, S Thomas, M Sinico, et al.
Journal of Medical Genetics|October 30, 2007
Hirschsprung disease, associated syndromes and genetics: a reviewJ Amiel, E Sproat-Emison, M Garcia-Barcelo, et al.
Journal of Medical Genetics|September 20, 2005
Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human developmentD Sanlaville, H C Etchevers, M Gonzales, et al.
The British Journal of Dermatology|August 25, 2018
Dermatological manifestations in cardiofaciocutaneous syndrome: a prospective multicentric study of 45 mutation-positive patientsD Bessis, F Morice-Picard, E Bourrat, et al.
Clinical Genetics|March 16, 2017
Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutationsN Lehman, A C Mazery, A Visier, et al.
Pageof 23

Showing results (211-220 of 223) with videos related to

Sort By:
Pageof 23
American Journal of Medical Genetics|April 29, 1998
CHARGE syndrome: report of 47 cases and reviewA L Tellier, V Cormier-Daire, V Abadie, et al.
Nature Genetics|January 1, 1997
Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene familyQ Y Li, R A Newbury-Ecob, J A Terrett, et al.
Molecular Genetics & Genomic Medicine|April 2, 2014
High frequency of exon 15 deletion in the FANCA gene in Tunisian patients affected with Fanconi anemia disease: implication for diagnosisAhlem Amouri, Faten Talmoudi, Olfa Messaoud, et al.
International Journal of Pediatric Otorhinolaryngology|June 19, 2023
Audiological phenotyping evaluation in KBG syndrome: Description of a multicenter reviewL Rhamati, A Marcolla, A M Guerrot, et al.
American Journal of Human Genetics|October 24, 2001
Survival of male patients with incontinentia pigmenti carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndromeS Kenwrick, H Woffendin, T Jakins, et al.
Clinical Genetics|October 6, 2012
OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairmentC Thauvin-Robinet, S Thomas, M Sinico, et al.
Journal of Medical Genetics|October 30, 2007
Hirschsprung disease, associated syndromes and genetics: a reviewJ Amiel, E Sproat-Emison, M Garcia-Barcelo, et al.
Journal of Medical Genetics|September 20, 2005
Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human developmentD Sanlaville, H C Etchevers, M Gonzales, et al.
The British Journal of Dermatology|August 25, 2018
Dermatological manifestations in cardiofaciocutaneous syndrome: a prospective multicentric study of 45 mutation-positive patientsD Bessis, F Morice-Picard, E Bourrat, et al.
Clinical Genetics|March 16, 2017
Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutationsN Lehman, A C Mazery, A Visier, et al.
Pageof 23