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Archives of Dermatology
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January 18, 2012
A novel mutation in the PORCN gene underlying a case of almost unilateral focal dermal hypoplasia
Diane Maalouf, Hala Mégarbané, Eliane Chouery, et al.
Epilepsia
|
April 1, 2016
A Kv7.2 mutation associated with early onset epileptic encephalopathy with suppression-burst enhances Kv7/M channel activity
Jérôme Devaux, Affef Abidi, Agathe Roubertie, et al.
Molecular and Cellular Endocrinology
|
August 6, 2002
Phenylphenols, biphenols, bisphenol-A and 4-tert-octylphenol exhibit alpha and beta estrogen activities and antiandrogen activity in reporter cell lines
Françoise Paris, Patrick Balaguer, Béatrice Térouanne, et al.
BMC Pregnancy and Childbirth
|
May 7, 2026
Study protocol FRENCH-ARRIVE: labor induction in low-risk nulliparous women at 39 weeks of gestation to reduce cesarean births: a randomized trial of induction versus expectant management in France
Hugo Madar, Jean-Marie Chrétien, Hanane Bouchghoul, et al.
European Journal of Medical Genetics
|
November 28, 2017
Missense mutation of TTC7A mimicking tricho-hepato-enteric (SD/THE) syndrome in a patient with very-early onset inflammatory bowel disease
João Farela Neves, Isabel Afonso, Luis Borrego, et al.
Journal of Genetics
|
March 29, 2016
Coverage Analysis of Lists of Genes involved in Heterogeneous Genetic Diseases following Benchtop Exome Sequencing using the Ion Proton
Caroline Lacoste, Jean-Pierre Desvignes, David Salgado, et al.
Acta Dermato-Venereologica
|
January 17, 2015
Malignant Melanoma Arising in Patients with a Large Congenital Melanocytic Naevus: Retrospective Study of 10 Cases with Cytogenetic Analysis
Caroline Lacoste, Marie-Françoise Avril, Annonciade Frassati-Biaggi, et al.
Journal of Pediatric Gastroenterology and Nutrition
|
March 27, 2009
Exclusion of EGFR, HRAS, DSP, JUP, CTNNB1, PLEC1, and EPPK1 as functional candidate genes in 7 families with syndromic diarrhoea
Alexandre Fabre, Bertrand Roquelaure, Caroline Lacoste, et al.
European Journal of Human Genetics : EJHG
|
June 21, 2007
Partial duplications of the ATRX gene cause the ATR-X syndrome
Bernard Thienpont, Thomy de Ravel, Hilde Van Esch, et al.
American Journal of Medical Genetics. Part A
|
May 12, 2015
Variable clinical expression in patients with mosaicism for KCNQ2 mutations
Mathieu Milh, Caroline Lacoste, Pierre Cacciagli, et al.
Page
of 4
Search research articles
Search
Showing results (11-20 of 37) with videos related to
Sort By:
Page
of 4
Archives of Dermatology
|
January 18, 2012
A novel mutation in the PORCN gene underlying a case of almost unilateral focal dermal hypoplasia
Diane Maalouf, Hala Mégarbané, Eliane Chouery, et al.
Epilepsia
|
April 1, 2016
A Kv7.2 mutation associated with early onset epileptic encephalopathy with suppression-burst enhances Kv7/M channel activity
Jérôme Devaux, Affef Abidi, Agathe Roubertie, et al.
Molecular and Cellular Endocrinology
|
August 6, 2002
Phenylphenols, biphenols, bisphenol-A and 4-tert-octylphenol exhibit alpha and beta estrogen activities and antiandrogen activity in reporter cell lines
Françoise Paris, Patrick Balaguer, Béatrice Térouanne, et al.
BMC Pregnancy and Childbirth
|
May 7, 2026
Study protocol FRENCH-ARRIVE: labor induction in low-risk nulliparous women at 39 weeks of gestation to reduce cesarean births: a randomized trial of induction versus expectant management in France
Hugo Madar, Jean-Marie Chrétien, Hanane Bouchghoul, et al.
European Journal of Medical Genetics
|
November 28, 2017
Missense mutation of TTC7A mimicking tricho-hepato-enteric (SD/THE) syndrome in a patient with very-early onset inflammatory bowel disease
João Farela Neves, Isabel Afonso, Luis Borrego, et al.
Journal of Genetics
|
March 29, 2016
Coverage Analysis of Lists of Genes involved in Heterogeneous Genetic Diseases following Benchtop Exome Sequencing using the Ion Proton
Caroline Lacoste, Jean-Pierre Desvignes, David Salgado, et al.
Acta Dermato-Venereologica
|
January 17, 2015
Malignant Melanoma Arising in Patients with a Large Congenital Melanocytic Naevus: Retrospective Study of 10 Cases with Cytogenetic Analysis
Caroline Lacoste, Marie-Françoise Avril, Annonciade Frassati-Biaggi, et al.
Journal of Pediatric Gastroenterology and Nutrition
|
March 27, 2009
Exclusion of EGFR, HRAS, DSP, JUP, CTNNB1, PLEC1, and EPPK1 as functional candidate genes in 7 families with syndromic diarrhoea
Alexandre Fabre, Bertrand Roquelaure, Caroline Lacoste, et al.
European Journal of Human Genetics : EJHG
|
June 21, 2007
Partial duplications of the ATRX gene cause the ATR-X syndrome
Bernard Thienpont, Thomy de Ravel, Hilde Van Esch, et al.
American Journal of Medical Genetics. Part A
|
May 12, 2015
Variable clinical expression in patients with mosaicism for KCNQ2 mutations
Mathieu Milh, Caroline Lacoste, Pierre Cacciagli, et al.
Page
of 4