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Hormone Research in Paediatrics
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December 23, 2019
Targeted Searches of the Electronic Health Record and Genomics Identify an Etiology in Three Patients with Short Stature and High IGF-I Levels
Catalina Cabrera-Salcedo, Colin P Hawkes, Leah Tyzinski, et al.
Molecular and Cellular Endocrinology
|
October 20, 2022
Atypical STAT5B deficiency, severe short stature and mild immunodeficiency associated with a novel homozygous STAT5B Variant
Gonul Catli, Wen Gao, Corinne Foley, et al.
Hormone Research in Paediatrics
|
October 28, 2020
A Novel Mutation in Insulin-Like Growth Factor 1 Receptor (c.641-2A>G) Is Associated with Impaired Growth, Hypoglycemia, and Modified Immune Phenotypes
Melanie R Shapiro, Timothy P Foster, Daniel J Perry, et al.
Hormone Research in Paediatrics
|
April 11, 2017
Expanding Genetic and Functional Diagnoses of IGF1R Haploinsufficiencies
Paula Ocaranza, Marjorie C Golekoh, Shayne F Andrew, et al.
Human Molecular Genetics
|
January 10, 2014
Congenital disorder of fucosylation type 2c (LADII) presenting with short stature and developmental delay with minimal adhesion defect
Andrew Dauber, Altan Ercan, Jack Lee, et al.
Kidney360
|
June 20, 2022
Longitudinal Associations between Low Serum Bicarbonate and Linear Growth in Children with CKD
Denver D Brown, Megan Carroll, Derek K Ng, et al.
Hormone Research in Paediatrics
|
June 2, 2016
Two Patients with Severe Short Stature due to a FBN1 Mutation (p.Ala1728Val) with a Mild Form of Acromicric Dysplasia
Christiaan de Bruin, Courtney Finlayson, Mariana F A Funari, et al.
The Journal of Clinical Endocrinology and Metabolism
|
July 25, 2014
A novel variant in CDKN1C is associated with intrauterine growth restriction, short stature, and early-adulthood-onset diabetes
Sarah L Kerns, Jaime Guevara-Aguirre, Shayne Andrew, et al.
European Journal of Human Genetics : EJHG
|
December 15, 2011
17q24.2 microdeletions: a new syndromal entity with intellectual disability, truncal obesity, mood swings and hallucinations
Sarah Vergult, Andrew Dauber, Barbara Delle Chiaie, et al.
Journal of the Endocrine Society
|
December 1, 2017
Novel Dominant-Negative GH Receptor Mutations Expands the Spectrum of GHI and IGF-I Deficiency
Kanimozhi Vairamani, Lina Merjaneh, Paula Casano-Sancho, et al.
Page
of 15
Search research articles
Search
Showing results (91-100 of 144) with videos related to
Sort By:
Page
of 15
Hormone Research in Paediatrics
|
December 23, 2019
Targeted Searches of the Electronic Health Record and Genomics Identify an Etiology in Three Patients with Short Stature and High IGF-I Levels
Catalina Cabrera-Salcedo, Colin P Hawkes, Leah Tyzinski, et al.
Molecular and Cellular Endocrinology
|
October 20, 2022
Atypical STAT5B deficiency, severe short stature and mild immunodeficiency associated with a novel homozygous STAT5B Variant
Gonul Catli, Wen Gao, Corinne Foley, et al.
Hormone Research in Paediatrics
|
October 28, 2020
A Novel Mutation in Insulin-Like Growth Factor 1 Receptor (c.641-2A>G) Is Associated with Impaired Growth, Hypoglycemia, and Modified Immune Phenotypes
Melanie R Shapiro, Timothy P Foster, Daniel J Perry, et al.
Hormone Research in Paediatrics
|
April 11, 2017
Expanding Genetic and Functional Diagnoses of IGF1R Haploinsufficiencies
Paula Ocaranza, Marjorie C Golekoh, Shayne F Andrew, et al.
Human Molecular Genetics
|
January 10, 2014
Congenital disorder of fucosylation type 2c (LADII) presenting with short stature and developmental delay with minimal adhesion defect
Andrew Dauber, Altan Ercan, Jack Lee, et al.
Kidney360
|
June 20, 2022
Longitudinal Associations between Low Serum Bicarbonate and Linear Growth in Children with CKD
Denver D Brown, Megan Carroll, Derek K Ng, et al.
Hormone Research in Paediatrics
|
June 2, 2016
Two Patients with Severe Short Stature due to a FBN1 Mutation (p.Ala1728Val) with a Mild Form of Acromicric Dysplasia
Christiaan de Bruin, Courtney Finlayson, Mariana F A Funari, et al.
The Journal of Clinical Endocrinology and Metabolism
|
July 25, 2014
A novel variant in CDKN1C is associated with intrauterine growth restriction, short stature, and early-adulthood-onset diabetes
Sarah L Kerns, Jaime Guevara-Aguirre, Shayne Andrew, et al.
European Journal of Human Genetics : EJHG
|
December 15, 2011
17q24.2 microdeletions: a new syndromal entity with intellectual disability, truncal obesity, mood swings and hallucinations
Sarah Vergult, Andrew Dauber, Barbara Delle Chiaie, et al.
Journal of the Endocrine Society
|
December 1, 2017
Novel Dominant-Negative GH Receptor Mutations Expands the Spectrum of GHI and IGF-I Deficiency
Kanimozhi Vairamani, Lina Merjaneh, Paula Casano-Sancho, et al.
Page
of 15