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Prenatal Diagnosis
|
October 24, 2017
Comment on "Whole exome sequencing and array-based molecular karyotyping as aids to prenatal diagnosis in fetuses with suspected Simpson-Golabi-Behmel syndrome"
Christine Fauth, Annick Toutain
Neuromuscular Disorders : NMD
|
March 23, 2007
A second pedigree with autosomal dominant nemaline myopathy caused by TPM3 mutation: a clinical and pathological study
Isabelle Pénisson-Besnier, Nicole Monnier, Annick Toutain, et al.
Journal of Clinical Ultrasound : JCU
|
March 14, 2007
Pentalogy of Cantrell: sonographic assessment
Claire Desselle, Philippe Herve, Annick Toutain, et al.
American Journal of Medical Genetics. Part A
|
March 11, 2006
No major contribution of the TGFBR1- and TGFBR2-mediated pathway to Kabuki syndrome
Armand Bottani, Bruno Pardo, Isabelle Bouchardy, et al.
Clinical Dysmorphology
|
September 30, 2011
Floating-Harbor Syndrome: report on a case in a mother and daughter, further evidence of autosomal dominant inheritance
Stéphanie Arpin, Alexandra Afenjar, Béatrice Dubern, et al.
Nature Reviews. Endocrinology
|
March 8, 2019
Overgrowth syndromes - clinical and molecular aspects and tumour risk
Frédéric Brioude, Annick Toutain, Eloise Giabicani, et al.
American Journal of Perinatology
|
October 3, 2002
Akinesia, arthrogryposis, craniosynostosis: a presentation of neonatal myasthenia with fetal onset
Sylvain Cantagrel, Laure Maury, Anne-Marie Yamamoto, et al.
American Journal of Medical Genetics. Part A
|
November 12, 2013
Duplication of exon 2 of the GPC3 gene in a case of Simpson-Golabi-Behmel syndrome
Edouard Cottereau, Marie-Pierre Moizard, Albert David, et al.
Frontiers in Neuroscience
|
March 20, 2023
The molecular basis of p21-activated kinase-associated neurodevelopmental disorders: From genotype to phenotype
Manon Dobrigna, Sandrine Poëa-Guyon, Véronique Rousseau, et al.
European Journal of Human Genetics : EJHG
|
March 25, 2025
Novel variants in FOXI3 gene confirm its implication in Oculo-Auriculo-Vertebral spectrum
Angèle Sequeira, Thomas Sagardoy, Laetitia Bourgeade, et al.
Page
of 19
Search research articles
Search
Showing results (1-10 of 185) with videos related to
Sort By:
Page
of 19
Prenatal Diagnosis
|
October 24, 2017
Comment on "Whole exome sequencing and array-based molecular karyotyping as aids to prenatal diagnosis in fetuses with suspected Simpson-Golabi-Behmel syndrome"
Christine Fauth, Annick Toutain
Neuromuscular Disorders : NMD
|
March 23, 2007
A second pedigree with autosomal dominant nemaline myopathy caused by TPM3 mutation: a clinical and pathological study
Isabelle Pénisson-Besnier, Nicole Monnier, Annick Toutain, et al.
Journal of Clinical Ultrasound : JCU
|
March 14, 2007
Pentalogy of Cantrell: sonographic assessment
Claire Desselle, Philippe Herve, Annick Toutain, et al.
American Journal of Medical Genetics. Part A
|
March 11, 2006
No major contribution of the TGFBR1- and TGFBR2-mediated pathway to Kabuki syndrome
Armand Bottani, Bruno Pardo, Isabelle Bouchardy, et al.
Clinical Dysmorphology
|
September 30, 2011
Floating-Harbor Syndrome: report on a case in a mother and daughter, further evidence of autosomal dominant inheritance
Stéphanie Arpin, Alexandra Afenjar, Béatrice Dubern, et al.
Nature Reviews. Endocrinology
|
March 8, 2019
Overgrowth syndromes - clinical and molecular aspects and tumour risk
Frédéric Brioude, Annick Toutain, Eloise Giabicani, et al.
American Journal of Perinatology
|
October 3, 2002
Akinesia, arthrogryposis, craniosynostosis: a presentation of neonatal myasthenia with fetal onset
Sylvain Cantagrel, Laure Maury, Anne-Marie Yamamoto, et al.
American Journal of Medical Genetics. Part A
|
November 12, 2013
Duplication of exon 2 of the GPC3 gene in a case of Simpson-Golabi-Behmel syndrome
Edouard Cottereau, Marie-Pierre Moizard, Albert David, et al.
Frontiers in Neuroscience
|
March 20, 2023
The molecular basis of p21-activated kinase-associated neurodevelopmental disorders: From genotype to phenotype
Manon Dobrigna, Sandrine Poëa-Guyon, Véronique Rousseau, et al.
European Journal of Human Genetics : EJHG
|
March 25, 2025
Novel variants in FOXI3 gene confirm its implication in Oculo-Auriculo-Vertebral spectrum
Angèle Sequeira, Thomas Sagardoy, Laetitia Bourgeade, et al.
Page
of 19