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Dov Tiosano

Showing results (41-50 of 53) with videos related to

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Clinical Genetics|July 20, 2020
COG6-CDG: Expanding the phenotype with emphasis on glycosylation defects involved in the causation of male disorders of sex developmentHanna Mandel, Nehama Cohen Kfir, Ayalla Fedida, et al.
Human Molecular Genetics|March 2, 2010
Identification and characterization of novel parathyroid-specific transcription factor Glial Cells Missing Homolog B (GCMB) mutations in eight families with autosomal recessive hypoparathyroidismMichael R Bowl, Samantha M Mirczuk, Irina V Grigorieva, et al.
Human Molecular Genetics|March 23, 2018
Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiencyAnlu Chen, Dov Tiosano, Tulay Guran, et al.
The Journal of Clinical Endocrinology and Metabolism|March 14, 2019
Combined Gestational Age- and Birth Weight-Adjusted Cutoffs for Newborn Screening of Congenital Adrenal HyperplasiaNaomi Pode-Shakked, Ayala Blau, Ben Pode-Shakked, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 14, 2014
Congenital hypogonadotropic hypogonadism with split hand/foot malformation: a clinical entity with a high frequency of FGFR1 mutationsCarine Villanueva, Elka Jacobson-Dickman, Cheng Xu, et al.
Plos Genetics|April 30, 2019
Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunctionDov Tiosano, Hagit N Baris, Anlu Chen, et al.
Journal of the American Society of Nephrology : JASN|April 5, 2014
Mutations in SLC34A3/NPT2c are associated with kidney stones and nephrocalcinosisDebayan Dasgupta, Mark J Wee, Monica Reyes, et al.
Hormone Research in Paediatrics|January 8, 2016
Global Consensus Recommendations on Prevention and Management of Nutritional RicketsCraig F Munns, Nick Shaw, Mairead Kiely, et al.
The Journal of Clinical Endocrinology and Metabolism|January 9, 2016
Global Consensus Recommendations on Prevention and Management of Nutritional RicketsCraig F Munns, Nick Shaw, Mairead Kiely, et al.
The Journal of Adolescent Health : Official Publication of the Society for Adolescent Medicine|January 29, 2020
Primary Ovarian Insufficiency Nationwide Incidence Rate and Etiology Among Israeli AdolescentsNoah Gruber, Shir Kugler, Liat de Vries, et al.
Pageof 6

Showing results (41-50 of 53) with videos related to

Sort By:
Pageof 6
Clinical Genetics|July 20, 2020
COG6-CDG: Expanding the phenotype with emphasis on glycosylation defects involved in the causation of male disorders of sex developmentHanna Mandel, Nehama Cohen Kfir, Ayalla Fedida, et al.
Human Molecular Genetics|March 2, 2010
Identification and characterization of novel parathyroid-specific transcription factor Glial Cells Missing Homolog B (GCMB) mutations in eight families with autosomal recessive hypoparathyroidismMichael R Bowl, Samantha M Mirczuk, Irina V Grigorieva, et al.
Human Molecular Genetics|March 23, 2018
Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiencyAnlu Chen, Dov Tiosano, Tulay Guran, et al.
The Journal of Clinical Endocrinology and Metabolism|March 14, 2019
Combined Gestational Age- and Birth Weight-Adjusted Cutoffs for Newborn Screening of Congenital Adrenal HyperplasiaNaomi Pode-Shakked, Ayala Blau, Ben Pode-Shakked, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 14, 2014
Congenital hypogonadotropic hypogonadism with split hand/foot malformation: a clinical entity with a high frequency of FGFR1 mutationsCarine Villanueva, Elka Jacobson-Dickman, Cheng Xu, et al.
Plos Genetics|April 30, 2019
Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunctionDov Tiosano, Hagit N Baris, Anlu Chen, et al.
Journal of the American Society of Nephrology : JASN|April 5, 2014
Mutations in SLC34A3/NPT2c are associated with kidney stones and nephrocalcinosisDebayan Dasgupta, Mark J Wee, Monica Reyes, et al.
Hormone Research in Paediatrics|January 8, 2016
Global Consensus Recommendations on Prevention and Management of Nutritional RicketsCraig F Munns, Nick Shaw, Mairead Kiely, et al.
The Journal of Clinical Endocrinology and Metabolism|January 9, 2016
Global Consensus Recommendations on Prevention and Management of Nutritional RicketsCraig F Munns, Nick Shaw, Mairead Kiely, et al.
The Journal of Adolescent Health : Official Publication of the Society for Adolescent Medicine|January 29, 2020
Primary Ovarian Insufficiency Nationwide Incidence Rate and Etiology Among Israeli AdolescentsNoah Gruber, Shir Kugler, Liat de Vries, et al.
Pageof 6