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Valérie Malan

Showing results (1-10 of 85) with videos related to

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Clinical Dysmorphology|December 5, 2012
Sporadic NF1 mutation associated with a de-novo 20q11.3 deletion explains the association of unusual facies, Moyamoya vasculopathy, and developmental delay, reported by Bertoli et al. in 2009Claudia Santoro, Valérie Malan, Marta Bertoli, et al.
Cardiology in the Young|January 22, 2013
FOX gene cluster defects in alveolar capillary dysplasia associated with congenital heart diseaseDaniela Laux, Valérie Malan, Fanny Bajolle, et al.
Fertility and Sterility|October 10, 2006
Whole-arm translocations between chromosome 1 and acrocentric G chromosomes are associated with a poor prognosis for spermatogenesis: two new cases and review of the literatureFrançois Vialard, Marc Nouchy, Valérie Malan, et al.
The Journal of Clinical Endocrinology and Metabolism|April 16, 2014
High frequency of X chromosome abnormalities in women with short stature and elevated liver enzymesDominique Roulot, Valérie Malan, Marianne Ziol, et al.
Nucleic Acids Research|May 21, 2021
CNVxplorer: a web tool to assist clinical interpretation of CNVs in rare disease patientsFrancisco Requena, Hamza Hadj Abdallah, Alejandro García, et al.
Journal of Pediatric Gastroenterology and Nutrition|March 11, 2010
Heterozygous FIC1 deficiency: a new genetic predisposition to transient neonatal cholestasisEmmanuel Jacquemin, Valérie Malan, Marlène Rio, et al.
Journal of Gynecology Obstetrics and Human Reproduction|January 15, 2026
Chromosomal abnormalities diagnosed at the chromosomal microarray in pregnancies with isolated high risk of trisomy 21Helyett Ollivier, Valérie Malan, Raphael Bartin, et al.
JAMA Network Open|March 30, 2019
Women's Attitudes Toward Invasive and Noninvasive Testing When Facing a High Risk of Fetal Down SyndromeValerie Seror, Olivier L'Haridon, Laurence Bussières, et al.
Cytogenetic and Genome Research|March 9, 2017
Large Duplications Can Be Benign Copy Number Variants: A Case of a 3.6-Mb Xq21.33 DuplicationMarie-Laure Maurin, Chloé Arfeuille, Pascale Sonigo, et al.
BMC Psychiatry|October 23, 2015
Case report: an unexpected link between partial deletion of the SHANK3 gene and Heller's dementia infantilis, a rare subtype of autism spectrum disorderAnne Philippe, Yann Craus, Marlène Rio, et al.
Pageof 9

Showing results (1-10 of 85) with videos related to

Sort By:
Pageof 9
Clinical Dysmorphology|December 5, 2012
Sporadic NF1 mutation associated with a de-novo 20q11.3 deletion explains the association of unusual facies, Moyamoya vasculopathy, and developmental delay, reported by Bertoli et al. in 2009Claudia Santoro, Valérie Malan, Marta Bertoli, et al.
Cardiology in the Young|January 22, 2013
FOX gene cluster defects in alveolar capillary dysplasia associated with congenital heart diseaseDaniela Laux, Valérie Malan, Fanny Bajolle, et al.
Fertility and Sterility|October 10, 2006
Whole-arm translocations between chromosome 1 and acrocentric G chromosomes are associated with a poor prognosis for spermatogenesis: two new cases and review of the literatureFrançois Vialard, Marc Nouchy, Valérie Malan, et al.
The Journal of Clinical Endocrinology and Metabolism|April 16, 2014
High frequency of X chromosome abnormalities in women with short stature and elevated liver enzymesDominique Roulot, Valérie Malan, Marianne Ziol, et al.
Nucleic Acids Research|May 21, 2021
CNVxplorer: a web tool to assist clinical interpretation of CNVs in rare disease patientsFrancisco Requena, Hamza Hadj Abdallah, Alejandro García, et al.
Journal of Pediatric Gastroenterology and Nutrition|March 11, 2010
Heterozygous FIC1 deficiency: a new genetic predisposition to transient neonatal cholestasisEmmanuel Jacquemin, Valérie Malan, Marlène Rio, et al.
Journal of Gynecology Obstetrics and Human Reproduction|January 15, 2026
Chromosomal abnormalities diagnosed at the chromosomal microarray in pregnancies with isolated high risk of trisomy 21Helyett Ollivier, Valérie Malan, Raphael Bartin, et al.
JAMA Network Open|March 30, 2019
Women's Attitudes Toward Invasive and Noninvasive Testing When Facing a High Risk of Fetal Down SyndromeValerie Seror, Olivier L'Haridon, Laurence Bussières, et al.
Cytogenetic and Genome Research|March 9, 2017
Large Duplications Can Be Benign Copy Number Variants: A Case of a 3.6-Mb Xq21.33 DuplicationMarie-Laure Maurin, Chloé Arfeuille, Pascale Sonigo, et al.
BMC Psychiatry|October 23, 2015
Case report: an unexpected link between partial deletion of the SHANK3 gene and Heller's dementia infantilis, a rare subtype of autism spectrum disorderAnne Philippe, Yann Craus, Marlène Rio, et al.
Pageof 9