Sökresultat - Dauber, Andrew

Insights from exome sequencing in common and rare human endocrine disorders av Dauber, Andrew, de Bruin, Christiaan

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Novel Modulators of the Growth Hormone - Insulin-Like Growth Factor Axis: Pregnancy-Associated Plasma Protein-A2 and Stanniocalcin-2 av Fujimoto, Masanobu, Hwa, Vivian, Dauber, Andrew

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The Clinical Cases of Geleophysic Dysplasia: One Gene, Different Phenotypes av Globa, Evgenia, Zelinska, Nataliya, Dauber, Andrew

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Mosaic variegated aneuploidy syndrome caused by a CEP57 mutation diagnosed by whole exome sequencing av Brightman, Diana S., Ejaz, Sehar, Dauber, Andrew

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Disorders caused by genetic defects associated with GH-dependent genes: PAPPA2 defects. av Fujimoto, Masanobu, Andrew, Melissa, Dauber, Andrew

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Nocturnal Dexamethasone versus Hydrocortisone for the Treatment of Children with Congenital Adrenal Hyperplasia av Dauber, Andrew, Feldman, Henry A., Majzoub, Joseph A.

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Genetic Evaluation of Short Stature av Dauber, Andrew, Rosenfeld, Ron G., Hirschhorn, Joel N.

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Idiopathic Short Stature due to Novel Heterozygous Mutation of the Aggrecan Gene av Quintos, Jose Bernardo, Guo, Michael H., Dauber, Andrew

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Insights and Implications of Genome-Wide Association Studies of Height av Guo, Michael H, Hirschhorn, Joel N, Dauber, Andrew

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Skeletal Dysplasia, Global Developmental Delay, and Multiple Congenital Anomalies in a 5 year-old boy– Report of the Second Family with B3GAT3 mutation and Expansion of the Phenoty... av von Oettingen, Julia E., Tan, Wen-Hann, Dauber, Andrew

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Isolated Central Hypothyroidism in Young Siblings as a Manifestation of PROP1 Deficiency: Clinical Impact of Whole Exome Sequencing av Wassner, Ari J., Cohen, Laurie E., Hechter, Eliana, Dauber, Andrew

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Whole exome sequencing in a patient with uniparental disomy of chromosome 2 and a complex phenotype av Carmichael, Heather, Shen, Yiping, T, Thutrang, Hirschhorn, Joel N, Dauber, Andrew

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Adrenal Insufficiency, Sex Reversal, and Angelman Syndrome due to Uniparental Disomy Unmasking a Mutation in CYP11A1 av Kim, Ahlee, Fujimoto, Masanobu, Hwa, Vivian, Backeljauw, Philippe, Dauber, Andrew

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Whole exome sequencing reveals a novel mutation in CUL7 in a patient with an undiagnosed growth disorder av Dauber, Andrew, Stoler, Joan, Hechter, Eliana, Safer, Jason, Hirschhorn, Joel N

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Severe short stature in two siblings as the presenting sign of ACP5 deficiency av de Bruin, Christiaan, Orbak, Zerrin, Andrew, Melissa, Hwa, Vivian, Dauber, Andrew

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Novel germline mutation (Leu512Met) in the thyrotropin receptor gene (TSHR) leading to sporadic non-autoimmune hyperthyroidism av Roberts, Stephanie A., Moon, Jennifer E., Dauber, Andrew, Smith, Jessica R.

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Two Siblings with a Mutation in CCDC8 Presenting with Mild Short Stature: A Case of 3-M Syndrome av Liao, Lihong, Gan, Hoong-Wei, Hwa, Vivian, Dattani, Mehul, Dauber, Andrew

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PAPPA2 as a Therapeutic Modulator of IGF-I Bioavailability: in Vivo and in Vitro Evidence av Andrew, Melissa, Liao, Lihong, Fujimoto, Masanobu, Khoury, Jane, Hwa, Vivian, Dauber, Andrew

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A Novel Homozygous Mutation of the Acid-Labile Subunit (IGFALS) Gene in a Male Adolescent av Poyrazoğlu, Şükran, Hwa, Vivian, Baş, Firdevs, Dauber, Andrew, Rosenfeld, Ron, Darendeliler, Feyza

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Severe growth failure associated with a novel heterozygous nonsense mutation in the GHR transmembrane domain leading to elevated growth hormone binding protein av Rughani, Ankur, Zhang, Dongsheng, Vairamani, Kanimozhi, Dauber, Andrew, Hwa, Vivian, Krishnan, Sowmya

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