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Geert Mortier

Showing results (41-50 of 156) with videos related to

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Bone Reports|February 7, 2020
Spondylo-epi-metaphyseal dysplasia due to a homozygous missense mutation in the gene encoding Matrilin-3 (T120M)Liza Das, Vandana Dhiman, Wim Van Hul, et al.
American Journal of Medical Genetics. Part A|June 9, 2009
Hartsfield holoprosencephaly-ectrodactyly syndrome in five male patients: further delineation and reviewCatheline Vilain, Geert Mortier, Guy Van Vliet, et al.
European Journal of Medical Genetics|December 2, 2008
Unusual 8p inverted duplication deletion with telomere capture from 8qKaren Buysse, Francesca Antonacci, Bert Callewaert, et al.
The Journal of Clinical Endocrinology and Metabolism|January 4, 2024
A Mosaic Variant in CTNNB1/β-catenin as a Novel Cause for Osteopathia Striata With Cranial SclerosisYentl Huybrechts, Natasha M Appelman-Dijkstra, Ellen Steenackers, et al.
Autism Research : Official Journal of the International Society for Autism Research|June 13, 2012
Haploinsufficiency of CMIP in a girl with autism spectrum disorder and developmental delay due to a de novo deletion on chromosome 16q23.2Nathalie Van der Aa, Geert Vandeweyer, Edwin Reyniers, et al.
International Journal of Pediatric Otorhinolaryngology|February 17, 2007
Overall intelligibility, language, articulation, voice and resonance characteristics in a child with Shprintzen-Goldberg syndromeKristiane M Van Lierde, Geert Mortier, Bart Loeys, et al.
European Journal of Medical Genetics|September 22, 2009
Challenges for CNV interpretation in clinical molecular karyotyping: lessons learned from a 1001 sample experienceKaren Buysse, Barbara Delle Chiaie, Rudy Van Coster, et al.
Stem Cell Research|January 14, 2023
IPSC reprogramming of two patients with spondyloepimetaphyseal dysplasia (SEMD, biglycan type)Pauline De Kinderen, Silke Peeters, Laura Rabaut, et al.
Bone|October 10, 2012
Mutations in sFRP1 or sFRP4 are not a common cause of craniotubular hyperostosisEveline Boudin, Elke Piters, Igor Fijalkowski, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 17, 2021
Caffey disease is associated with distinct arginine to cysteine substitutions in the proα1(I) chain of type I procollagenTibbe Dhooge, Delfien Syx, Trinh Hermanns-Lê, et al.
Pageof 16

Showing results (41-50 of 156) with videos related to

Sort By:
Pageof 16
Bone Reports|February 7, 2020
Spondylo-epi-metaphyseal dysplasia due to a homozygous missense mutation in the gene encoding Matrilin-3 (T120M)Liza Das, Vandana Dhiman, Wim Van Hul, et al.
American Journal of Medical Genetics. Part A|June 9, 2009
Hartsfield holoprosencephaly-ectrodactyly syndrome in five male patients: further delineation and reviewCatheline Vilain, Geert Mortier, Guy Van Vliet, et al.
European Journal of Medical Genetics|December 2, 2008
Unusual 8p inverted duplication deletion with telomere capture from 8qKaren Buysse, Francesca Antonacci, Bert Callewaert, et al.
The Journal of Clinical Endocrinology and Metabolism|January 4, 2024
A Mosaic Variant in CTNNB1/β-catenin as a Novel Cause for Osteopathia Striata With Cranial SclerosisYentl Huybrechts, Natasha M Appelman-Dijkstra, Ellen Steenackers, et al.
Autism Research : Official Journal of the International Society for Autism Research|June 13, 2012
Haploinsufficiency of CMIP in a girl with autism spectrum disorder and developmental delay due to a de novo deletion on chromosome 16q23.2Nathalie Van der Aa, Geert Vandeweyer, Edwin Reyniers, et al.
International Journal of Pediatric Otorhinolaryngology|February 17, 2007
Overall intelligibility, language, articulation, voice and resonance characteristics in a child with Shprintzen-Goldberg syndromeKristiane M Van Lierde, Geert Mortier, Bart Loeys, et al.
European Journal of Medical Genetics|September 22, 2009
Challenges for CNV interpretation in clinical molecular karyotyping: lessons learned from a 1001 sample experienceKaren Buysse, Barbara Delle Chiaie, Rudy Van Coster, et al.
Stem Cell Research|January 14, 2023
IPSC reprogramming of two patients with spondyloepimetaphyseal dysplasia (SEMD, biglycan type)Pauline De Kinderen, Silke Peeters, Laura Rabaut, et al.
Bone|October 10, 2012
Mutations in sFRP1 or sFRP4 are not a common cause of craniotubular hyperostosisEveline Boudin, Elke Piters, Igor Fijalkowski, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 17, 2021
Caffey disease is associated with distinct arginine to cysteine substitutions in the proα1(I) chain of type I procollagenTibbe Dhooge, Delfien Syx, Trinh Hermanns-Lê, et al.
Pageof 16