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Showing results (71-80 of 260) with videos related to

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American Journal of Medical Genetics. Part A|August 2, 2005
The GJB2 mutation R75Q can cause nonsyndromic hearing loss DFNA3 or hereditary palmoplantar keratoderma with deafnessDelphine Feldmann, Françoise Denoyelle, Hélène Blons, et al.
Orphanet Journal of Rare Diseases|June 5, 2020
Should autism spectrum disorder be considered part of CHARGE syndrome? A cross-sectional study of 46 patientsVéronique Abadie, Priscilla Hamiaux, Stéphanie Ragot, et al.
American Journal of Medical Genetics. Part A|July 12, 2005
Exclusion of WNT4 as a major gene in Rokitansky-Küster-Hauser anomalyMathieu Clément-Ziza, Naziha Khen, Jacques Gonzales, et al.
American Journal of Medical Genetics|January 25, 2002
Osteopathia striata cranial sclerosis: non-random X-inactivation suggestive of X-linked dominant inheritanceGéraldine Viot, Didier Lacombe, Albert David, et al.
Gastroenterology|November 3, 2004
Claudin-1 gene mutations in neonatal sclerosing cholangitis associated with ichthyosis: a tight junction diseaseSmail Hadj-Rabia, Lekbir Baala, Pierre Vabres, et al.
Prenatal Diagnosis|September 27, 2017
Efficiency of prenatal diagnosis in Pierre Robin sequenceElvira Di Pasquo, Jeanne Amiel, Philippe Roth, et al.
Orphanet Journal of Rare Diseases|June 3, 2014
CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging studyEnnio Del Giudice, Marina Macca, Floriana Imperati, et al.
American Journal of Medical Genetics. Part A|March 26, 2014
Multiple congenital anomalies-intellectual disability (MCA-ID) and neuroblastoma in a patient harboring a de novo 14q23.1q23.3 deletionDaphné Lehalle, Damien Sanlaville, Anne Guimier, et al.
Science (New York, N.Y.)|April 19, 2003
Lamin a truncation in Hutchinson-Gilford progeriaAnnachiara De Sandre-Giovannoli, Rafaëlle Bernard, Pierre Cau, et al.
The Journal of Pathology|September 22, 2009
Cholinergic switch associated with morphological differentiation in neuroblastomaFranck Bourdeaut, Isabelle Janoueix-Lerosey, Carlo Lucchesi, et al.
Pageof 26

Showing results (71-80 of 260) with videos related to

Sort By:
Pageof 26
American Journal of Medical Genetics. Part A|August 2, 2005
The GJB2 mutation R75Q can cause nonsyndromic hearing loss DFNA3 or hereditary palmoplantar keratoderma with deafnessDelphine Feldmann, Françoise Denoyelle, Hélène Blons, et al.
Orphanet Journal of Rare Diseases|June 5, 2020
Should autism spectrum disorder be considered part of CHARGE syndrome? A cross-sectional study of 46 patientsVéronique Abadie, Priscilla Hamiaux, Stéphanie Ragot, et al.
American Journal of Medical Genetics. Part A|July 12, 2005
Exclusion of WNT4 as a major gene in Rokitansky-Küster-Hauser anomalyMathieu Clément-Ziza, Naziha Khen, Jacques Gonzales, et al.
American Journal of Medical Genetics|January 25, 2002
Osteopathia striata cranial sclerosis: non-random X-inactivation suggestive of X-linked dominant inheritanceGéraldine Viot, Didier Lacombe, Albert David, et al.
Gastroenterology|November 3, 2004
Claudin-1 gene mutations in neonatal sclerosing cholangitis associated with ichthyosis: a tight junction diseaseSmail Hadj-Rabia, Lekbir Baala, Pierre Vabres, et al.
Prenatal Diagnosis|September 27, 2017
Efficiency of prenatal diagnosis in Pierre Robin sequenceElvira Di Pasquo, Jeanne Amiel, Philippe Roth, et al.
Orphanet Journal of Rare Diseases|June 3, 2014
CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging studyEnnio Del Giudice, Marina Macca, Floriana Imperati, et al.
American Journal of Medical Genetics. Part A|March 26, 2014
Multiple congenital anomalies-intellectual disability (MCA-ID) and neuroblastoma in a patient harboring a de novo 14q23.1q23.3 deletionDaphné Lehalle, Damien Sanlaville, Anne Guimier, et al.
Science (New York, N.Y.)|April 19, 2003
Lamin a truncation in Hutchinson-Gilford progeriaAnnachiara De Sandre-Giovannoli, Rafaëlle Bernard, Pierre Cau, et al.
The Journal of Pathology|September 22, 2009
Cholinergic switch associated with morphological differentiation in neuroblastomaFranck Bourdeaut, Isabelle Janoueix-Lerosey, Carlo Lucchesi, et al.
Pageof 26