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Journal of Clinical Research in Pediatric Endocrinology|January 29, 2011
Two siblings with isolated GH deficiency due to loss-of-function mutation in the GHRHR gene: successful treatment with growth hormone despite late admission and severe growth retardationZeynep Sıklar, Merih Berberoğlu, Maria Legendre, et al.
American Journal of Respiratory Cell and Molecular Biology|February 28, 2002
Isolation and expression of the human hPF20 gene orthologous to Chlamydomonas PF20: evaluation as a candidate for axonemal defects of respiratory cilia and sperm flagellaGaëlle Pennarun, Anne-Marie Bridoux, Estelle Escudier, et al.
The Journal of Clinical Endocrinology and Metabolism|July 27, 2006
The growth response to growth hormone (GH) treatment in children with isolated GH deficiency is independent of the presence of the exon 3-minus isoform of the GH receptorWerner F Blum, Kalotina Machinis, Elena P Shavrikova, et al.
The International Journal of Biochemistry & Cell Biology|August 31, 2013
Alveolar epithelial cells: master regulators of lung homeostasisLoïc Guillot, Nadia Nathan, Olivier Tabary, et al.
The Journal of Clinical Endocrinology and Metabolism|August 31, 2006
Novel HESX1 mutations associated with a life-threatening neonatal phenotype, pituitary aplasia, but normally located posterior pituitary and no optic nerve abnormalitiesMarie-Laure Sobrier, Mohamad Maghnie, Marie-Pierre Vié-Luton, et al.
Human Mutation|April 21, 2005
Alu-element insertion in the homeodomain of HESX1 and aplasia of the anterior pituitaryMarie-Laure Sobrier, Irène Netchine, Claudine Heinrichs, et al.
Biochemical Pharmacology|May 6, 2023
Pharmacological options in the treatment of osteogenesis imperfecta: A comprehensive review of clinical and potential alternativesJavier Muñoz-Garcia, Dominique Heymann, Irina Giurgea, et al.
Arthritis and Rheumatism|May 4, 2011
Identification and functional consequences of a recurrent NLRP12 missense mutation in periodic fever syndromesIsabelle Jéru, Gaëlle Le Borgne, Emmanuelle Cochet, et al.
European Journal of Human Genetics : EJHG|October 11, 2012
The role of GHR and IGF1 genes in the genetic determination of African pygmies' short statureNoémie S A Becker, Paul Verdu, Myriam Georges, et al.
The Journal of Clinical Endocrinology and Metabolism|October 1, 2009
Recessive isolated growth hormone deficiency and mutations in the ghrelin receptorJacques Pantel, Marie Legendre, Sylvie Nivot, et al.
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