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American Journal of Human Genetics
|
January 9, 2008
SERKAL syndrome: an autosomal-recessive disorder caused by a loss-of-function mutation in WNT4
Hannah Mandel, Revital Shemer, Zvi U Borochowitz, et al.
G3 (Bethesda, Md.)
|
February 28, 2016
Latitudinal Clines of the Human Vitamin D Receptor and Skin Color Genes
Dov Tiosano, Laura Audi, Sharlee Climer, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research
|
December 6, 2021
An Expert Perspective on Phosphate Dysregulation With a Focus on Chronic Hypophosphatemia
Fahad Aljuraibah, Justine Bacchetta, Maria Luisa Brandi, et al.
American Journal of Human Genetics
|
December 17, 2005
Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3
Bettina Lorenz-Depiereux, Anna Benet-Pages, Gertrud Eckstein, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research
|
November 18, 2014
TSH elevations as the first laboratory evidence for pseudohypoparathyroidism type Ib (PHP-Ib)
Angelo Molinaro, Dov Tiosano, Rieko Takatani, et al.
American Journal of Medical Genetics. Part A
|
June 9, 2016
Is one diagnosis the whole story? patients with double diagnoses
Alina Kurolap, Naama Orenstein, Inbal Kedar, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM
|
May 27, 2025
Characterizing the metabolome of children with growth hormone deficiency
Smadar Shilo, Ayya Keshet, Rana Halloun, et al.
The Journal of Clinical Endocrinology and Metabolism
|
June 5, 2019
Germline USP8 Mutation Associated With Pediatric Cushing Disease and Other Clinical Features: A New Syndrome
Michal Cohen, Rebecca Persky, Rachel Stegemann, et al.
Frontiers in Pediatrics
|
December 17, 2024
Nephrocalcinosis tendency does not worsen under burosumab treatment for X-linked hypophosphatemic rickets: a multicenter pediatric study
Shelly Levi, Daniel Landau, Miriam Davidovits, et al.
European Journal of Pediatrics
|
September 14, 2023
Linear growth of children with X-linked hypophosphatemia treated with burosumab: a real-life observational study
Yael Levy-Shraga, Shelly Levi, Ravit Regev, et al.
Page
of 6
Search research articles
Search
Showing results (31-40 of 53) with videos related to
Sort By:
Page
of 6
American Journal of Human Genetics
|
January 9, 2008
SERKAL syndrome: an autosomal-recessive disorder caused by a loss-of-function mutation in WNT4
Hannah Mandel, Revital Shemer, Zvi U Borochowitz, et al.
G3 (Bethesda, Md.)
|
February 28, 2016
Latitudinal Clines of the Human Vitamin D Receptor and Skin Color Genes
Dov Tiosano, Laura Audi, Sharlee Climer, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research
|
December 6, 2021
An Expert Perspective on Phosphate Dysregulation With a Focus on Chronic Hypophosphatemia
Fahad Aljuraibah, Justine Bacchetta, Maria Luisa Brandi, et al.
American Journal of Human Genetics
|
December 17, 2005
Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3
Bettina Lorenz-Depiereux, Anna Benet-Pages, Gertrud Eckstein, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research
|
November 18, 2014
TSH elevations as the first laboratory evidence for pseudohypoparathyroidism type Ib (PHP-Ib)
Angelo Molinaro, Dov Tiosano, Rieko Takatani, et al.
American Journal of Medical Genetics. Part A
|
June 9, 2016
Is one diagnosis the whole story? patients with double diagnoses
Alina Kurolap, Naama Orenstein, Inbal Kedar, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM
|
May 27, 2025
Characterizing the metabolome of children with growth hormone deficiency
Smadar Shilo, Ayya Keshet, Rana Halloun, et al.
The Journal of Clinical Endocrinology and Metabolism
|
June 5, 2019
Germline USP8 Mutation Associated With Pediatric Cushing Disease and Other Clinical Features: A New Syndrome
Michal Cohen, Rebecca Persky, Rachel Stegemann, et al.
Frontiers in Pediatrics
|
December 17, 2024
Nephrocalcinosis tendency does not worsen under burosumab treatment for X-linked hypophosphatemic rickets: a multicenter pediatric study
Shelly Levi, Daniel Landau, Miriam Davidovits, et al.
European Journal of Pediatrics
|
September 14, 2023
Linear growth of children with X-linked hypophosphatemia treated with burosumab: a real-life observational study
Yael Levy-Shraga, Shelly Levi, Ravit Regev, et al.
Page
of 6