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Gudrun A Rappold

Showing results (41-50 of 77) with videos related to

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Genes|September 4, 2020
Two Cases of Recessive Intellectual Disability Caused by <i>NDST1</i> and <i>METTL23</i> VariantsAmjad Khan, Zhichao Miao, Muhammad Umair, et al.
Hormone Research in Paediatrics|March 4, 2010
Hormones and genes of importance in bone physiology and their influence on bone mineralization and growth in Turner syndromeAnenisia C Andrade, Jeffrey Baron, Stavros C Manolagas, et al.
The Journal of Clinical Endocrinology and Metabolism|March 13, 2002
Deletions of the homeobox gene SHOX (short stature homeobox) are an important cause of growth failure in children with short statureGudrun A Rappold, Maki Fukami, Beate Niesler, et al.
Proceedings of the National Academy of Sciences of the United States of America|August 27, 2002
The novel Rho-GTPase activating gene MEGAP/ srGAP3 has a putative role in severe mental retardationVolker Endris, Birgit Wogatzky, Uwe Leimer, et al.
The Annals of Otology, Rhinology, and Laryngology|February 25, 2003
Congenital conductive hearing loss in dyschondrosteosisEls M R De Leenheer, Grétel G Oudesluijs, Anne-Marie Kuijpers-Jagtman, et al.
European Journal of Human Genetics : EJHG|May 1, 2018
Functional missense and splicing variants in the retinoic acid catabolizing enzyme CYP26C1 in idiopathic short statureAntonino Montalbano, Lonny Juergensen, Maki Fukami, et al.
Frontiers in Endocrinology|December 28, 2023
Identification of novel genes including <i>NAV2</i> associated with isolated tall statureBirgit Weiss, Tim Ott, Philipp Vick, et al.
EMBO Molecular Medicine|November 19, 2016
Retinoic acid catabolizing enzyme CYP26C1 is a genetic modifier in SHOX deficiencyAntonino Montalbano, Lonny Juergensen, Ralph Roeth, et al.
Plos One|June 3, 2014
Identification of novel SHOX target genes in the developing limb using a transgenic mouse modelKatja U Beiser, Anne Glaser, Kerstin Kleinschmidt, et al.
Neurogastroenterology and Motility|May 12, 2020
Comparative expression profiling in the intestine of patients with Giardia-induced postinfectious functional gastrointestinal disordersCristina Martínez, Felix Lasitschka, Cornelia Thöni, et al.
Pageof 8

Showing results (41-50 of 77) with videos related to

Sort By:
Pageof 8
Genes|September 4, 2020
Two Cases of Recessive Intellectual Disability Caused by <i>NDST1</i> and <i>METTL23</i> VariantsAmjad Khan, Zhichao Miao, Muhammad Umair, et al.
Hormone Research in Paediatrics|March 4, 2010
Hormones and genes of importance in bone physiology and their influence on bone mineralization and growth in Turner syndromeAnenisia C Andrade, Jeffrey Baron, Stavros C Manolagas, et al.
The Journal of Clinical Endocrinology and Metabolism|March 13, 2002
Deletions of the homeobox gene SHOX (short stature homeobox) are an important cause of growth failure in children with short statureGudrun A Rappold, Maki Fukami, Beate Niesler, et al.
Proceedings of the National Academy of Sciences of the United States of America|August 27, 2002
The novel Rho-GTPase activating gene MEGAP/ srGAP3 has a putative role in severe mental retardationVolker Endris, Birgit Wogatzky, Uwe Leimer, et al.
The Annals of Otology, Rhinology, and Laryngology|February 25, 2003
Congenital conductive hearing loss in dyschondrosteosisEls M R De Leenheer, Grétel G Oudesluijs, Anne-Marie Kuijpers-Jagtman, et al.
European Journal of Human Genetics : EJHG|May 1, 2018
Functional missense and splicing variants in the retinoic acid catabolizing enzyme CYP26C1 in idiopathic short statureAntonino Montalbano, Lonny Juergensen, Maki Fukami, et al.
Frontiers in Endocrinology|December 28, 2023
Identification of novel genes including <i>NAV2</i> associated with isolated tall statureBirgit Weiss, Tim Ott, Philipp Vick, et al.
EMBO Molecular Medicine|November 19, 2016
Retinoic acid catabolizing enzyme CYP26C1 is a genetic modifier in SHOX deficiencyAntonino Montalbano, Lonny Juergensen, Ralph Roeth, et al.
Plos One|June 3, 2014
Identification of novel SHOX target genes in the developing limb using a transgenic mouse modelKatja U Beiser, Anne Glaser, Kerstin Kleinschmidt, et al.
Neurogastroenterology and Motility|May 12, 2020
Comparative expression profiling in the intestine of patients with Giardia-induced postinfectious functional gastrointestinal disordersCristina Martínez, Felix Lasitschka, Cornelia Thöni, et al.
Pageof 8