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Daniel Kelberman

Showing results (21-30 of 34) with videos related to

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The Journal of Clinical Endocrinology and Metabolism|December 7, 2006
HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarismDavid E G McNay, James P Turton, Daniel Kelberman, et al.
Gene|November 12, 2013
A novel heterozygous SOX2 mutation causing congenital bilateral anophthalmia, hypogonadotropic hypogonadism and growth hormone deficiencyAnnamaria Macchiaroli, Daniel Kelberman, Renata Simona Auriemma, et al.
Thrombosis and Haemostasis|November 16, 2004
Effect of Interleukin-6 promoter polymorphisms in survivors of myocardial infarction and matched controls in the North and South of Europe. The HIFMECH StudyDaniel Kelberman, E Hawe, L A Luong, et al.
Human Molecular Genetics|May 31, 2012
ATOH7 mutations cause autosomal recessive persistent hyperplasia of the primary vitreousLev Prasov, Tehmina Masud, Shagufta Khaliq, et al.
The Journal of Clinical Endocrinology and Metabolism|January 4, 2007
Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal functionLin Lin, Pascal Philibert, Bruno Ferraz-de-Souza, et al.
The Journal of Clinical Investigation|August 26, 2006
Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humansDaniel Kelberman, Karine Rizzoti, Ariel Avilion, et al.
Annals of the Rheumatic Diseases|December 23, 2022
Role of CD14+ monocyte-derived oxidised mitochondrial DNA in the inflammatory interferon type 1 signature in juvenile dermatomyositisMeredyth G Ll Wilkinson, Dale Moulding, Thomas C R McDonnell, et al.
Human Molecular Genetics|January 14, 2014
Mutation of SALL2 causes recessive ocular coloboma in humans and miceDaniel Kelberman, Lily Islam, Jörn Lakowski, et al.
Ebiomedicine|March 18, 2019
Impaired EIF2S3 function associated with a novel phenotype of X-linked hypopituitarism with glucose dysregulationLouise C Gregory, Carolina B Ferreira, Sara K Young-Baird, et al.
Frontiers in Immunology|July 11, 2018
CD19<sup>+</sup>CD24<sup>hi</sup>CD38<sup>hi</sup> B Cells Are Expanded in Juvenile Dermatomyositis and Exhibit a Pro-Inflammatory Phenotype After Activation Through Toll-Like Receptor 7 and Interferon-αChristopher J M Piper, Meredyth G Ll Wilkinson, Claire T Deakin, et al.
Pageof 4

Showing results (21-30 of 34) with videos related to

Sort By:
Pageof 4
The Journal of Clinical Endocrinology and Metabolism|December 7, 2006
HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarismDavid E G McNay, James P Turton, Daniel Kelberman, et al.
Gene|November 12, 2013
A novel heterozygous SOX2 mutation causing congenital bilateral anophthalmia, hypogonadotropic hypogonadism and growth hormone deficiencyAnnamaria Macchiaroli, Daniel Kelberman, Renata Simona Auriemma, et al.
Thrombosis and Haemostasis|November 16, 2004
Effect of Interleukin-6 promoter polymorphisms in survivors of myocardial infarction and matched controls in the North and South of Europe. The HIFMECH StudyDaniel Kelberman, E Hawe, L A Luong, et al.
Human Molecular Genetics|May 31, 2012
ATOH7 mutations cause autosomal recessive persistent hyperplasia of the primary vitreousLev Prasov, Tehmina Masud, Shagufta Khaliq, et al.
The Journal of Clinical Endocrinology and Metabolism|January 4, 2007
Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal functionLin Lin, Pascal Philibert, Bruno Ferraz-de-Souza, et al.
The Journal of Clinical Investigation|August 26, 2006
Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humansDaniel Kelberman, Karine Rizzoti, Ariel Avilion, et al.
Annals of the Rheumatic Diseases|December 23, 2022
Role of CD14+ monocyte-derived oxidised mitochondrial DNA in the inflammatory interferon type 1 signature in juvenile dermatomyositisMeredyth G Ll Wilkinson, Dale Moulding, Thomas C R McDonnell, et al.
Human Molecular Genetics|January 14, 2014
Mutation of SALL2 causes recessive ocular coloboma in humans and miceDaniel Kelberman, Lily Islam, Jörn Lakowski, et al.
Ebiomedicine|March 18, 2019
Impaired EIF2S3 function associated with a novel phenotype of X-linked hypopituitarism with glucose dysregulationLouise C Gregory, Carolina B Ferreira, Sara K Young-Baird, et al.
Frontiers in Immunology|July 11, 2018
CD19<sup>+</sup>CD24<sup>hi</sup>CD38<sup>hi</sup> B Cells Are Expanded in Juvenile Dermatomyositis and Exhibit a Pro-Inflammatory Phenotype After Activation Through Toll-Like Receptor 7 and Interferon-αChristopher J M Piper, Meredyth G Ll Wilkinson, Claire T Deakin, et al.
Pageof 4