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Journal of Negative Results in Biomedicine
|
January 31, 2006
The Mayer-Rokitansky-Küster-Hauser syndrome (congenital absence of uterus and vagina)--phenotypic manifestations and genetic approaches
Daniel Guerrier, Thomas Mouchel, Laurent Pasquier, et al.
Pediatric Dermatology
|
March 8, 2022
Child with a mild CHIME syndrome phenotype and carrying a novel p.(Asp52Asn) PIGL pathogenic variant in association with the previously reported p.(Leu167Pro) variant: A case report
Marion Rolland, Christèle Dubourg, Auriane Cospain, et al.
Orphanet Journal of Rare Diseases
|
February 6, 2007
Holoprosencephaly
Christèle Dubourg, Claude Bendavid, Laurent Pasquier, et al.
Clinical Genetics
|
March 29, 2022
IQSEC2-related encephalopathy in males due to missense variants in the pleckstrin homology domain
Cheryl Shoubridge, Tracy Dudding-Byth, Laurent Pasquier, et al.
European Journal of Human Genetics : EJHG
|
January 11, 2023
Attitudes of professional stakeholders towards implementation of reproductive genetic carrier screening: a systematic review
Laurent Pasquier, Maryn Reyneke, Lauranne Beeckman, et al.
Journal of Community Genetics
|
January 14, 2022
A systematic review of the views of healthcare professionals on the scope of preimplantation genetic testing
Maria Siermann, Zoë Claesen, Laurent Pasquier, et al.
American Journal of Ophthalmology
|
December 4, 2003
The association of autosomal dominant optic atrophy and moderate deafness may be due to the R445H mutation in the OPA1 gene
Patrizia Amati-Bonneau, Sylvie Odent, Christelle Derrien, et al.
International Journal of Molecular Sciences
|
March 14, 2017
Role of Genetics in the Etiology of Autistic Spectrum Disorder: Towards a Hierarchical Diagnostic Strategy
Cyrille Robert, Laurent Pasquier, David Cohen, et al.
European Journal of Human Genetics : EJHG
|
January 8, 2022
Informing relatives of their genetic risk: an examination of the Belgian legal context
Amicia Phillips, Thomas Bronselaer, Pascal Borry, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
January 28, 2010
Genetic counseling and "molecular" prenatal diagnosis of holoprosencephaly (HPE)
Sandra Mercier, Christèle Dubourg, Marion Belleguic, et al.
Page
of 13
Search research articles
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Showing results (1-10 of 122) with videos related to
Sort By:
Page
of 13
Journal of Negative Results in Biomedicine
|
January 31, 2006
The Mayer-Rokitansky-Küster-Hauser syndrome (congenital absence of uterus and vagina)--phenotypic manifestations and genetic approaches
Daniel Guerrier, Thomas Mouchel, Laurent Pasquier, et al.
Pediatric Dermatology
|
March 8, 2022
Child with a mild CHIME syndrome phenotype and carrying a novel p.(Asp52Asn) PIGL pathogenic variant in association with the previously reported p.(Leu167Pro) variant: A case report
Marion Rolland, Christèle Dubourg, Auriane Cospain, et al.
Orphanet Journal of Rare Diseases
|
February 6, 2007
Holoprosencephaly
Christèle Dubourg, Claude Bendavid, Laurent Pasquier, et al.
Clinical Genetics
|
March 29, 2022
IQSEC2-related encephalopathy in males due to missense variants in the pleckstrin homology domain
Cheryl Shoubridge, Tracy Dudding-Byth, Laurent Pasquier, et al.
European Journal of Human Genetics : EJHG
|
January 11, 2023
Attitudes of professional stakeholders towards implementation of reproductive genetic carrier screening: a systematic review
Laurent Pasquier, Maryn Reyneke, Lauranne Beeckman, et al.
Journal of Community Genetics
|
January 14, 2022
A systematic review of the views of healthcare professionals on the scope of preimplantation genetic testing
Maria Siermann, Zoë Claesen, Laurent Pasquier, et al.
American Journal of Ophthalmology
|
December 4, 2003
The association of autosomal dominant optic atrophy and moderate deafness may be due to the R445H mutation in the OPA1 gene
Patrizia Amati-Bonneau, Sylvie Odent, Christelle Derrien, et al.
International Journal of Molecular Sciences
|
March 14, 2017
Role of Genetics in the Etiology of Autistic Spectrum Disorder: Towards a Hierarchical Diagnostic Strategy
Cyrille Robert, Laurent Pasquier, David Cohen, et al.
European Journal of Human Genetics : EJHG
|
January 8, 2022
Informing relatives of their genetic risk: an examination of the Belgian legal context
Amicia Phillips, Thomas Bronselaer, Pascal Borry, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
January 28, 2010
Genetic counseling and "molecular" prenatal diagnosis of holoprosencephaly (HPE)
Sandra Mercier, Christèle Dubourg, Marion Belleguic, et al.
Page
of 13