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American Journal of Medical Genetics. Part A
|
January 11, 2013
Developmental outcome in Pierre Robin sequence: a longitudinal and prospective study of a consecutive series of severe phenotypes
Béatrice Thouvenin, Juliette Djadi-Prat, Christel Chalouhi, et al.
Molecular Syndromology
|
August 18, 2015
Novel Mutation and Structural RNA Analysis of the Noncoding RNase MRP Gene in Cartilage-Hair Hypoplasia
Imane Cherkaoui Jaouad, Fatima Z Laarabi, Siham Chafai Elalaoui, et al.
The Journal of Urology
|
February 14, 2007
Rokitansky syndrome: clinical experience and results of sigmoid vaginoplasty in 23 young girls
Naziha Khen-Dunlop, Stephen Lortat-Jacob, Elisabeth Thibaud, et al.
Prenatal Diagnosis
|
May 19, 2015
Prenatal diagnosis of Pierre Robin Sequence: accuracy and ability to predict phenotype and functional severity
Katia Lind, Marie-Cécile Aubry, Nadia Belarbi, et al.
Pediatric Research
|
April 23, 2005
Thyroid hemiagenesis is a rare variant of thyroid dysgenesis with a familial component but without Pax8 mutations in a cohort of 22 cases
Mireille Castanet, Laurence Leenhardt, Juliane Léger, et al.
The Journal of Steroid Biochemistry and Molecular Biology
|
December 20, 2016
Altered SOX9 genital tubercle enhancer region in hypospadias
Rajini Sreenivasan, Christopher T Gordon, Sabina Benko, et al.
Hepatology (Baltimore, Md.)
|
July 13, 2011
Polynesian ecology determines seasonality of biliary atresia
Muriel Girard, Anne-Sophie Jannot, Marianne Besnard, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
March 17, 2004
Myoclonus and generalized digestive dysmotility in triple A syndrome with AAAS gene mutation
Anne Roubergue, Emmanuelle Apartis, Marie Vidailhet, et al.
American Journal of Medical Genetics. Part A
|
January 28, 2003
Exclusion of RNX as a major gene in congenital central hypoventilation syndrome (CCHS, Ondine's curse)
Jeanne Amiel, Anna Pelet, Ha Trang, et al.
American Journal of Medical Genetics. Part A
|
December 14, 2007
New case of interstitial deletion 12(q15-q21.2) in a girl with facial dysmorphism and mental retardation
Caroline Schluth, Roselyne Gesny, Guntram Borck, et al.
Page
of 26
Search research articles
Search
Showing results (31-40 of 260) with videos related to
Sort By:
Page
of 26
American Journal of Medical Genetics. Part A
|
January 11, 2013
Developmental outcome in Pierre Robin sequence: a longitudinal and prospective study of a consecutive series of severe phenotypes
Béatrice Thouvenin, Juliette Djadi-Prat, Christel Chalouhi, et al.
Molecular Syndromology
|
August 18, 2015
Novel Mutation and Structural RNA Analysis of the Noncoding RNase MRP Gene in Cartilage-Hair Hypoplasia
Imane Cherkaoui Jaouad, Fatima Z Laarabi, Siham Chafai Elalaoui, et al.
The Journal of Urology
|
February 14, 2007
Rokitansky syndrome: clinical experience and results of sigmoid vaginoplasty in 23 young girls
Naziha Khen-Dunlop, Stephen Lortat-Jacob, Elisabeth Thibaud, et al.
Prenatal Diagnosis
|
May 19, 2015
Prenatal diagnosis of Pierre Robin Sequence: accuracy and ability to predict phenotype and functional severity
Katia Lind, Marie-Cécile Aubry, Nadia Belarbi, et al.
Pediatric Research
|
April 23, 2005
Thyroid hemiagenesis is a rare variant of thyroid dysgenesis with a familial component but without Pax8 mutations in a cohort of 22 cases
Mireille Castanet, Laurence Leenhardt, Juliane Léger, et al.
The Journal of Steroid Biochemistry and Molecular Biology
|
December 20, 2016
Altered SOX9 genital tubercle enhancer region in hypospadias
Rajini Sreenivasan, Christopher T Gordon, Sabina Benko, et al.
Hepatology (Baltimore, Md.)
|
July 13, 2011
Polynesian ecology determines seasonality of biliary atresia
Muriel Girard, Anne-Sophie Jannot, Marianne Besnard, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
March 17, 2004
Myoclonus and generalized digestive dysmotility in triple A syndrome with AAAS gene mutation
Anne Roubergue, Emmanuelle Apartis, Marie Vidailhet, et al.
American Journal of Medical Genetics. Part A
|
January 28, 2003
Exclusion of RNX as a major gene in congenital central hypoventilation syndrome (CCHS, Ondine's curse)
Jeanne Amiel, Anna Pelet, Ha Trang, et al.
American Journal of Medical Genetics. Part A
|
December 14, 2007
New case of interstitial deletion 12(q15-q21.2) in a girl with facial dysmorphism and mental retardation
Caroline Schluth, Roselyne Gesny, Guntram Borck, et al.
Page
of 26