Hakutulokset - Melissa Andrew
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Two Patients with Severe Short Stature due to a <b><i>FBN1</i></b> Mutation (p.Ala1728Val) with a Mild Form of Acromicric Dysplasia Tekijä Christiaan de Bruin, Courtney Finlayson, Mariana F.A. Funari, Gabriela A. Vasques, Bruna Lucheze Freire, Antônio Marcondes Lerário, Melissa Andrew, Vivian Hwa, Andrew Dauber, Alexander A.L. Jorge
Julkaistu 2016Artigo -
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Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects Tekijä Lia Boyle, Mirjam M. C. Wamelink, Gajja S. Salomons, Birthe Roos, Ana Pop, Andrew Dauber, Vivian Hwa, Melissa Andrew, Jessica Douglas, Murray Feingold, Nancy Kramer, Sulagna C. Saitta, Kyle Retterer, Megan T. Cho, Amber Begtrup, Kristin G. Monaghan, Julia Wynn, Wendy K. Chung
Julkaistu 2016Artigo -
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Paternally Inherited DLK1 Deletion Associated With Familial Central Precocious Puberty Tekijä Andrew Dauber, Marina Cunha-Silva, Delanie B. Macedo, Vinícius Nahime Brito, Ana Paula Abreu, Stephanie Roberts, Luciana Ribeiro Montenegro, Melissa Andrew, Andrew Kirby, Matthew T. Weirauch, Guillaume Labilloy, Danielle S. Bessa, Rona S. Carroll, Dakota C. Jacobs, Patrick E. Chappell, Berenice B. Mendonça, David Haig, Ursula B. Kaiser, Ana Cláudia Latronico
Julkaistu 2017Artigo -
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Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations Tekijä Alexandra Gkourogianni, Melissa Andrew, Leah Tyzinski, Melissa K. Crocker, Jessica Douglas, Nancy Dunbar, Jan Fairchild, Mariana F.A. Funari, Karen E. Heath, Alexander A.L. Jorge, Tracey Kurtzman, Stephen LaFranchi, Seema R. Lalani, Jan Lebl, Yuezhen Lin, Evan Los, Dorothee Newbern, C. Nowak, Micah L. Olson, Jadranka Popović, Štěpánka Průhová, Lenka Elblová, Jose Bernardo Quintos, Emma Segerlund, Lucia Sentchordi, Marwan Shinawi, Eva-Lena Stattin, Jonathan M. Swartz, Ariadna González del Ángel, Sinhué Diaz Cuéllar, Hidekazu Hosono, Pedro A. Sanchez‐Lara, Vivian Hwa, Jeffrey Baron, Ola Nilsson, Andrew Dauber
Julkaistu 2016Artigo
Työkalut:
Liittyvät aiheet
Biology
Internal medicine
Medicine
Endocrinology
Gene
Genetics
Exome sequencing
Mutation
Short stature
Context (archaeology)
Hormone
Missense mutation
Paleontology
Age of onset
Aggrecan
Alternative medicine
Articular cartilage
Astrocyte
Biochemistry
Bone age
Central nervous system
DNA methylation
Disease
Dysplasia
Enzyme
Exon
Gene expression
Genomic imprinting
Growth hormone
Hypothalamus