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Molecular Genetics & Genomic Medicine
|
September 8, 2019
Homozygous missense variant in BMPR1A resulting in BMPR signaling disruption and syndromic features
Bianca E Russell, Diana Rigueur, Kathryn N Weaver, et al.
The Journal of Clinical Endocrinology and Metabolism
|
July 12, 2020
A Genome-Wide Pharmacogenetic Study of Growth Hormone Responsiveness
Andrew Dauber, Yan Meng, Laura Audi, et al.
Human Mutation
|
February 24, 2015
Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature
Sophie R Wang, Christina M Jacobsen, Heather Carmichael, et al.
The Journal of Clinical Endocrinology and Metabolism
|
September 21, 2016
Treatment With Recombinant Human Insulin-Like Growth Factor-1 Improves Growth in Patients With PAPP-A2 Deficiency
María T Muñoz-Calvo, Vicente Barrios, Jesús Pozo, et al.
Hormone Research in Paediatrics
|
November 13, 2019
Growth and Clinical Characteristics of Children with Floating-Harbor Syndrome: Analysis of Current Original Data and a Review of the Literature
Thais K Homma, Bruna L Freire, Rachel Honjo, et al.
Journal of the Endocrine Society
|
September 16, 2022
Precocious Puberty in a Boy With Bilateral Leydig Cell Tumors due to a Somatic Gain-of-Function <i>LHCGR</i> Variant
Chelsi Flippo, Vipula Kolli, Melissa Andrew, et al.
The Journal of Clinical Endocrinology and Metabolism
|
August 31, 2012
Novel microcephalic primordial dwarfism disorder associated with variants in the centrosomal protein ninein
Andrew Dauber, Stephen H Lafranchi, Zoltan Maliga, et al.
The Journal of Clinical Endocrinology and Metabolism
|
March 6, 2015
An XRCC4 splice mutation associated with severe short stature, gonadal failure, and early-onset metabolic syndrome
Christiaan de Bruin, Verónica Mericq, Shayne F Andrew, et al.
Nature Communications
|
May 31, 2018
Dominant-negative STAT5B mutations cause growth hormone insensitivity with short stature and mild immune dysregulation
Jürgen Klammt, David Neumann, Evelien F Gevers, et al.
American Journal of Human Genetics
|
November 29, 2011
Genome-wide association of copy-number variation reveals an association between short stature and the presence of low-frequency genomic deletions
Andrew Dauber, Yongguo Yu, Michael C Turchin, et al.
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of 15
Search research articles
Search
Showing results (101-110 of 144) with videos related to
Sort By:
Page
of 15
Molecular Genetics & Genomic Medicine
|
September 8, 2019
Homozygous missense variant in BMPR1A resulting in BMPR signaling disruption and syndromic features
Bianca E Russell, Diana Rigueur, Kathryn N Weaver, et al.
The Journal of Clinical Endocrinology and Metabolism
|
July 12, 2020
A Genome-Wide Pharmacogenetic Study of Growth Hormone Responsiveness
Andrew Dauber, Yan Meng, Laura Audi, et al.
Human Mutation
|
February 24, 2015
Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature
Sophie R Wang, Christina M Jacobsen, Heather Carmichael, et al.
The Journal of Clinical Endocrinology and Metabolism
|
September 21, 2016
Treatment With Recombinant Human Insulin-Like Growth Factor-1 Improves Growth in Patients With PAPP-A2 Deficiency
María T Muñoz-Calvo, Vicente Barrios, Jesús Pozo, et al.
Hormone Research in Paediatrics
|
November 13, 2019
Growth and Clinical Characteristics of Children with Floating-Harbor Syndrome: Analysis of Current Original Data and a Review of the Literature
Thais K Homma, Bruna L Freire, Rachel Honjo, et al.
Journal of the Endocrine Society
|
September 16, 2022
Precocious Puberty in a Boy With Bilateral Leydig Cell Tumors due to a Somatic Gain-of-Function <i>LHCGR</i> Variant
Chelsi Flippo, Vipula Kolli, Melissa Andrew, et al.
The Journal of Clinical Endocrinology and Metabolism
|
August 31, 2012
Novel microcephalic primordial dwarfism disorder associated with variants in the centrosomal protein ninein
Andrew Dauber, Stephen H Lafranchi, Zoltan Maliga, et al.
The Journal of Clinical Endocrinology and Metabolism
|
March 6, 2015
An XRCC4 splice mutation associated with severe short stature, gonadal failure, and early-onset metabolic syndrome
Christiaan de Bruin, Verónica Mericq, Shayne F Andrew, et al.
Nature Communications
|
May 31, 2018
Dominant-negative STAT5B mutations cause growth hormone insensitivity with short stature and mild immune dysregulation
Jürgen Klammt, David Neumann, Evelien F Gevers, et al.
American Journal of Human Genetics
|
November 29, 2011
Genome-wide association of copy-number variation reveals an association between short stature and the presence of low-frequency genomic deletions
Andrew Dauber, Yongguo Yu, Michael C Turchin, et al.
Page
of 15