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European Journal of Endocrinology
|
January 16, 2026
Diagnostic Yield of Genetic Testing in Children with Short Stature: a Systematic Review
Renata C Scalco, Jan W Schoones, Despoina Galetaki, et al.
Gastroenterology
|
July 8, 2022
Using Human Induced Pluripotent Stem Cell-Derived Organoids to Identify New Pathologies in Patients With PDX1 Mutations
Mansa Krishnamurthy, Daniel O Kechele, Taylor Broda, et al.
American Journal of Human Genetics
|
October 22, 2013
SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant
Andrew Dauber, Christelle Golzio, Cécile Guenot, et al.
Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology
|
August 24, 2018
Genetic Evaluation of 114 Chinese Short Stature Children in the Next Generation Era: a Single Center Study
Zhuo Huang, Yu Sun, Yanjie Fan, et al.
Neuroendocrinology
|
May 27, 2016
High Frequency of MKRN3 Mutations in Male Central Precocious Puberty Previously Classified as Idiopathic
Danielle S Bessa, Delanie B Macedo, Vinicius N Brito, et al.
Advances in Therapy
|
February 28, 2026
Pathways to Facilitate Early Recognition and Diagnosis of Hypochondroplasia
Melita Irving, Elena Greco, Alessandra Cocca, et al.
American Journal of Human Genetics
|
June 4, 2016
Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects
Lia Boyle, Mirjam M C Wamelink, Gajja S Salomons, et al.
Plos Genetics
|
January 14, 2012
Common variants show predicted polygenic effects on height in the tails of the distribution, except in extremely short individuals
Yingleong Chan, Oddgeir L Holmen, Andrew Dauber, et al.
The Journal of Clinical Endocrinology and Metabolism
|
November 22, 2018
DLK1 Is a Novel Link Between Reproduction and Metabolism
Larissa G Gomes, Marina Cunha-Silva, Raiane P Crespo, et al.
The Journal of Clinical Endocrinology and Metabolism
|
October 31, 2013
Deletions of the PRKAR1A locus at 17q24.2-q24.3 in Carney complex: genotype-phenotype correlations and implications for genetic testing
Paraskevi Salpea, Anelia Horvath, Edra London, et al.
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of 15
Search research articles
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Showing results (111-120 of 144) with videos related to
Sort By:
Page
of 15
European Journal of Endocrinology
|
January 16, 2026
Diagnostic Yield of Genetic Testing in Children with Short Stature: a Systematic Review
Renata C Scalco, Jan W Schoones, Despoina Galetaki, et al.
Gastroenterology
|
July 8, 2022
Using Human Induced Pluripotent Stem Cell-Derived Organoids to Identify New Pathologies in Patients With PDX1 Mutations
Mansa Krishnamurthy, Daniel O Kechele, Taylor Broda, et al.
American Journal of Human Genetics
|
October 22, 2013
SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant
Andrew Dauber, Christelle Golzio, Cécile Guenot, et al.
Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology
|
August 24, 2018
Genetic Evaluation of 114 Chinese Short Stature Children in the Next Generation Era: a Single Center Study
Zhuo Huang, Yu Sun, Yanjie Fan, et al.
Neuroendocrinology
|
May 27, 2016
High Frequency of MKRN3 Mutations in Male Central Precocious Puberty Previously Classified as Idiopathic
Danielle S Bessa, Delanie B Macedo, Vinicius N Brito, et al.
Advances in Therapy
|
February 28, 2026
Pathways to Facilitate Early Recognition and Diagnosis of Hypochondroplasia
Melita Irving, Elena Greco, Alessandra Cocca, et al.
American Journal of Human Genetics
|
June 4, 2016
Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects
Lia Boyle, Mirjam M C Wamelink, Gajja S Salomons, et al.
Plos Genetics
|
January 14, 2012
Common variants show predicted polygenic effects on height in the tails of the distribution, except in extremely short individuals
Yingleong Chan, Oddgeir L Holmen, Andrew Dauber, et al.
The Journal of Clinical Endocrinology and Metabolism
|
November 22, 2018
DLK1 Is a Novel Link Between Reproduction and Metabolism
Larissa G Gomes, Marina Cunha-Silva, Raiane P Crespo, et al.
The Journal of Clinical Endocrinology and Metabolism
|
October 31, 2013
Deletions of the PRKAR1A locus at 17q24.2-q24.3 in Carney complex: genotype-phenotype correlations and implications for genetic testing
Paraskevi Salpea, Anelia Horvath, Edra London, et al.
Page
of 15