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Koenraad Devriendt

Showing results (31-40 of 190) with videos related to

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European Journal of Pediatrics|July 9, 2011
X-linked adrenal hypoplasia congenita: a novel DAX1 missense mutation and challenges for clinical diagnosis in AfricaAimé Lumaka, Gerrye Mubungu, Celestin Nsibu, et al.
Journal of Community Genetics|July 6, 2018
Usefulness of fragile X checklist and CGG distribution in specialized institutions in Kinshasa, DR CongoAimé Lumaka, Toni Kasole Lubala, Valérie Race, et al.
Hormone Research in Paediatrics|January 8, 2016
Expanding the CHARGE Geno-Phenotype: A Girl with Novel CHD7 Deletion, Hypogonadotropic Hypogonadism, and Agenesis of Uterus and OvariesNele Reynaert, Francis de Zegher, Inge Francois, et al.
European Journal of Obstetrics, Gynecology, and Reproductive Biology|October 16, 2018
First trimester cystic hygroma colli: Retrospective analysis in a tertiary centerLore Schreurs, Lore Lannoo, Luc De Catte, et al.
American Journal of Medical Genetics. Part A|March 23, 2012
A microdeletion proximal of the critical deletion region is associated with mild Wolf-Hirschhorn syndromeFemke Hannes, Peter Hammond, Oliver Quarrell, et al.
European Journal of Medical Genetics|June 1, 2013
HUWE1 mutation explains phenotypic severity in a case of familial idiopathic intellectual disabilityMala Isrie, Vera M Kalscheuer, Maureen Holvoet, et al.
European Journal of Human Genetics : EJHG|January 24, 2018
Congenital diaphragmatic hernia as a part of Nance-Horan syndrome?Molka Kammoun, Paul Brady, Luc De Catte, et al.
American Journal of Medical Genetics. Part A|May 15, 2020
Phenotype and growth in Sotos syndrome patient from DR Congo (Central Africa)Gerrye Mubungu, Guy Lukute, Prince Makay, et al.
American Journal of Medical Genetics. Part A|October 17, 2007
Limb anomalies in patients with CHARGE syndrome: an expansion of the phenotypeIngrid Van de Laar, Dennis Dooijes, Lies Hoefsloot, et al.
European Journal of Medical Genetics|February 7, 2015
3 generation pedigree with paternal transmission of the 22q11.2 deletion syndrome: Intrafamilial phenotypic variabilityElfi Vergaelen, Ann Swillen, Hilde Van Esch, et al.
Pageof 19

Showing results (31-40 of 190) with videos related to

Sort By:
Pageof 19
European Journal of Pediatrics|July 9, 2011
X-linked adrenal hypoplasia congenita: a novel DAX1 missense mutation and challenges for clinical diagnosis in AfricaAimé Lumaka, Gerrye Mubungu, Celestin Nsibu, et al.
Journal of Community Genetics|July 6, 2018
Usefulness of fragile X checklist and CGG distribution in specialized institutions in Kinshasa, DR CongoAimé Lumaka, Toni Kasole Lubala, Valérie Race, et al.
Hormone Research in Paediatrics|January 8, 2016
Expanding the CHARGE Geno-Phenotype: A Girl with Novel CHD7 Deletion, Hypogonadotropic Hypogonadism, and Agenesis of Uterus and OvariesNele Reynaert, Francis de Zegher, Inge Francois, et al.
European Journal of Obstetrics, Gynecology, and Reproductive Biology|October 16, 2018
First trimester cystic hygroma colli: Retrospective analysis in a tertiary centerLore Schreurs, Lore Lannoo, Luc De Catte, et al.
American Journal of Medical Genetics. Part A|March 23, 2012
A microdeletion proximal of the critical deletion region is associated with mild Wolf-Hirschhorn syndromeFemke Hannes, Peter Hammond, Oliver Quarrell, et al.
European Journal of Medical Genetics|June 1, 2013
HUWE1 mutation explains phenotypic severity in a case of familial idiopathic intellectual disabilityMala Isrie, Vera M Kalscheuer, Maureen Holvoet, et al.
European Journal of Human Genetics : EJHG|January 24, 2018
Congenital diaphragmatic hernia as a part of Nance-Horan syndrome?Molka Kammoun, Paul Brady, Luc De Catte, et al.
American Journal of Medical Genetics. Part A|May 15, 2020
Phenotype and growth in Sotos syndrome patient from DR Congo (Central Africa)Gerrye Mubungu, Guy Lukute, Prince Makay, et al.
American Journal of Medical Genetics. Part A|October 17, 2007
Limb anomalies in patients with CHARGE syndrome: an expansion of the phenotypeIngrid Van de Laar, Dennis Dooijes, Lies Hoefsloot, et al.
European Journal of Medical Genetics|February 7, 2015
3 generation pedigree with paternal transmission of the 22q11.2 deletion syndrome: Intrafamilial phenotypic variabilityElfi Vergaelen, Ann Swillen, Hilde Van Esch, et al.
Pageof 19