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Geert Mortier

Showing results (111-120 of 156) with videos related to

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American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|July 14, 2012
Severe neurologic manifestations from cervical spine instability in spondylo-megaepiphyseal-metaphyseal dysplasiaMarleen Simon, Ana Belinda Campos-Xavier, Lauréane Mittaz-Crettol, et al.
European Journal of Medical Genetics|September 2, 2015
Five patients with a chromosome 1q21.1 triplication show macrocephaly, increased weight and facial similaritiesAnke Van Dijck, Ilse M van der Werf, Edwin Reyniers, et al.
Human Mutation|December 13, 2006
Novel FGFR1 sequence variants in Kallmann syndrome, and genetic evidence that the FGFR1c isoform is required in olfactory bulb and palate morphogenesisCatherine Dodé, Corinne Fouveaut, Geert Mortier, et al.
American Journal of Human Genetics|May 25, 2010
Haploinsufficiency of TAB2 causes congenital heart defects in humansBernard Thienpont, Litu Zhang, Alex V Postma, et al.
Orphanet Journal of Rare Diseases|March 11, 2025
Recommendations for management of infants and young children with achondroplasia: Does clinical practice align?Encarna Guillen-Navarro, Moeenaldeen AlSayed, Inês Alves, et al.
The Journal of Clinical Endocrinology and Metabolism|April 9, 2026
The use of denosumab in rare bone diseases in adults: a systematic review from the ECTS Rare Bone Disease Action GroupOana O Bulaicon, Femke M van Haalen, Gavin P R Clunie, et al.
American Journal of Medical Genetics. Part A|October 16, 2010
Phenotype and natural history in Marshall-Smith syndromeAdam C Shaw, Inge D C van Balkom, Mislen Bauer, et al.
Human Genome Variation|June 9, 2016
A catalog of hemizygous variation in 127 22q11 deletion patientsMatthew S Hestand, Beata A Nowakowska, Elfi Vergaelen, et al.
Orphanet Journal of Rare Diseases|May 15, 2025
Management of sleep-disordered breathing in achondroplasia: guiding principles of the European Achondroplasia ForumBrigitte Fauroux, Moeenaldeen AlSayed, Tawfeg Ben-Omran, et al.
Elife|January 25, 2022
Preexisting memory CD4 T cells in naïve individuals confer robust immunity upon hepatitis B vaccinationGeorge Elias, Pieter Meysman, Esther Bartholomeus, et al.
Pageof 16

Showing results (111-120 of 156) with videos related to

Sort By:
Pageof 16
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|July 14, 2012
Severe neurologic manifestations from cervical spine instability in spondylo-megaepiphyseal-metaphyseal dysplasiaMarleen Simon, Ana Belinda Campos-Xavier, Lauréane Mittaz-Crettol, et al.
European Journal of Medical Genetics|September 2, 2015
Five patients with a chromosome 1q21.1 triplication show macrocephaly, increased weight and facial similaritiesAnke Van Dijck, Ilse M van der Werf, Edwin Reyniers, et al.
Human Mutation|December 13, 2006
Novel FGFR1 sequence variants in Kallmann syndrome, and genetic evidence that the FGFR1c isoform is required in olfactory bulb and palate morphogenesisCatherine Dodé, Corinne Fouveaut, Geert Mortier, et al.
American Journal of Human Genetics|May 25, 2010
Haploinsufficiency of TAB2 causes congenital heart defects in humansBernard Thienpont, Litu Zhang, Alex V Postma, et al.
Orphanet Journal of Rare Diseases|March 11, 2025
Recommendations for management of infants and young children with achondroplasia: Does clinical practice align?Encarna Guillen-Navarro, Moeenaldeen AlSayed, Inês Alves, et al.
The Journal of Clinical Endocrinology and Metabolism|April 9, 2026
The use of denosumab in rare bone diseases in adults: a systematic review from the ECTS Rare Bone Disease Action GroupOana O Bulaicon, Femke M van Haalen, Gavin P R Clunie, et al.
American Journal of Medical Genetics. Part A|October 16, 2010
Phenotype and natural history in Marshall-Smith syndromeAdam C Shaw, Inge D C van Balkom, Mislen Bauer, et al.
Human Genome Variation|June 9, 2016
A catalog of hemizygous variation in 127 22q11 deletion patientsMatthew S Hestand, Beata A Nowakowska, Elfi Vergaelen, et al.
Orphanet Journal of Rare Diseases|May 15, 2025
Management of sleep-disordered breathing in achondroplasia: guiding principles of the European Achondroplasia ForumBrigitte Fauroux, Moeenaldeen AlSayed, Tawfeg Ben-Omran, et al.
Elife|January 25, 2022
Preexisting memory CD4 T cells in naïve individuals confer robust immunity upon hepatitis B vaccinationGeorge Elias, Pieter Meysman, Esther Bartholomeus, et al.
Pageof 16