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Human Molecular Genetics
|
April 2, 2009
Five new TTF1/NKX2.1 mutations in brain-lung-thyroid syndrome: rescue by PAX8 synergism in one case
Aurore Carré, Gabor Szinnai, Mireille Castanet, et al.
Journal of Medical Genetics
|
January 24, 2018
<i>FAM46A</i> mutations are responsible for autosomal recessive osteogenesis imperfecta
Mathilde Doyard, Séverine Bacrot, Céline Huber, et al.
Frontiers in Nutrition
|
September 29, 2025
Correction: Partially hydrolyzed, whey-based infant formula with six human milk oligosaccharides, <i>B. infantis</i> LMG11588, and <i>B. lactis</i> CNCM I-3446 is safe, well tolerated, and improves gut health: a staged analysis of a randomized trial
Jean-Charles Picaud, Olivier Claris, Mercedes Gil-Campos, et al.
Frontiers in Nutrition
|
August 7, 2025
Partially hydrolyzed, whey-based infant formula with six human milk oligosaccharides, <i>B. infantis</i> LMG11588, and <i>B. lactis</i> CNCM I-3446 is safe, well tolerated, and improves gut health: a staged analysis of a randomized trial
Jean-Charles Picaud, Olivier Claris, Mercedes Gil-Campos, et al.
The Journal of Clinical Endocrinology and Metabolism
|
January 9, 2025
Digenic Inheritance Mode in Congenital Hypothyroidism due to Thyroid Dysgenesis: HYPOTYGEN translational cohort study
Athanasia Stoupa, Dulanjalee Kariyawasam, Fabienne Jabot-Hanin, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 30, 2023
Differential alternative splicing analysis links variation in ZRSR2 to a novel type of oral-facial-digital syndrome
Laurens Hannes, Marta Atzori, Alice Goldenberg, et al.
The Journal of Clinical Investigation
|
November 19, 2010
Mutations in the selenocysteine insertion sequence-binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humans
Erik Schoenmakers, Maura Agostini, Catherine Mitchell, et al.
Page
of 5
Search research articles
Search
Showing results (41-50 of 47) with videos related to
Sort By:
Page
of 5
You have reached the last page of results.
This site can display upto 47 results.
Human Molecular Genetics
|
April 2, 2009
Five new TTF1/NKX2.1 mutations in brain-lung-thyroid syndrome: rescue by PAX8 synergism in one case
Aurore Carré, Gabor Szinnai, Mireille Castanet, et al.
Journal of Medical Genetics
|
January 24, 2018
<i>FAM46A</i> mutations are responsible for autosomal recessive osteogenesis imperfecta
Mathilde Doyard, Séverine Bacrot, Céline Huber, et al.
Frontiers in Nutrition
|
September 29, 2025
Correction: Partially hydrolyzed, whey-based infant formula with six human milk oligosaccharides, <i>B. infantis</i> LMG11588, and <i>B. lactis</i> CNCM I-3446 is safe, well tolerated, and improves gut health: a staged analysis of a randomized trial
Jean-Charles Picaud, Olivier Claris, Mercedes Gil-Campos, et al.
Frontiers in Nutrition
|
August 7, 2025
Partially hydrolyzed, whey-based infant formula with six human milk oligosaccharides, <i>B. infantis</i> LMG11588, and <i>B. lactis</i> CNCM I-3446 is safe, well tolerated, and improves gut health: a staged analysis of a randomized trial
Jean-Charles Picaud, Olivier Claris, Mercedes Gil-Campos, et al.
The Journal of Clinical Endocrinology and Metabolism
|
January 9, 2025
Digenic Inheritance Mode in Congenital Hypothyroidism due to Thyroid Dysgenesis: HYPOTYGEN translational cohort study
Athanasia Stoupa, Dulanjalee Kariyawasam, Fabienne Jabot-Hanin, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 30, 2023
Differential alternative splicing analysis links variation in ZRSR2 to a novel type of oral-facial-digital syndrome
Laurens Hannes, Marta Atzori, Alice Goldenberg, et al.
The Journal of Clinical Investigation
|
November 19, 2010
Mutations in the selenocysteine insertion sequence-binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humans
Erik Schoenmakers, Maura Agostini, Catherine Mitchell, et al.
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of 5