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Daniel Kelberman

Showing results (11-20 of 34) with videos related to

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Archives of Dermatological Research|March 13, 2023
Unravelling morphoea aetiopathogenesis by next-generation sequencing of paired skin biopsiesAmanda M Saracino, Daniel Kelberman, Georg W Otto, et al.
Human Genome Variation|October 25, 2019
Novel missense variants in the <i>RNF213</i> gene from a European family with Moyamoya diseaseAndrey N Gagunashvili, Louise Ocaka, Daniel Kelberman, et al.
Human Mutation|December 16, 2014
Functional analysis of FOXE3 mutations causing dominant and recessive ocular anterior segment diseaseLily Islam, Daniel Kelberman, Laura Williamson, et al.
Human Mutation|August 13, 2011
Digenic inheritance of mutations in FOXC1 and PITX2 : correlating transcription factor function and Axenfeld-Rieger disease severityDaniel Kelberman, Lily Islam, Susan E Holder, et al.
Ophthalmology|May 24, 2011
CYP1B1-related anterior segment developmental anomalies novel mutations for infantile glaucoma and von Hippel's ulcer revisitedDaniel Kelberman, Lily Islam, Thomas S Jacques, et al.
Development (Cambridge, England)|March 16, 2007
Lack of the murine homeobox gene Hesx1 leads to a posterior transformation of the anterior forebrainCynthia L Andoniadou, Massimo Signore, Ezat Sajedi, et al.
The Journal of Clinical Endocrinology and Metabolism|February 4, 2011
Increased transactivation associated with SOX3 polyalanine tract deletion in a patient with hypopituitarismKyriaki S Alatzoglou, Daniel Kelberman, Christopher T Cowell, et al.
Disease Models & Mechanisms|December 19, 2008
Analysis of mouse models carrying the I26T and R160C substitutions in the transcriptional repressor HESX1 as models for septo-optic dysplasia and hypopituitarismEzat Sajedi, Carles Gaston-Massuet, Massimo Signore, et al.
Human Mutation|September 16, 2011
SOX2 haploinsufficiency is associated with slow progressing hypothalamo-pituitary tumoursKyriaki S Alatzoglou, Cynthia L Andoniadou, Daniel Kelberman, et al.
Human Molecular Genetics|April 15, 2008
Novel mutations in LHX3 are associated with hypopituitarism and sensorineural hearing lossAnna Rajab, Daniel Kelberman, Sandra C P de Castro, et al.
Pageof 4

Showing results (11-20 of 34) with videos related to

Sort By:
Pageof 4
Archives of Dermatological Research|March 13, 2023
Unravelling morphoea aetiopathogenesis by next-generation sequencing of paired skin biopsiesAmanda M Saracino, Daniel Kelberman, Georg W Otto, et al.
Human Genome Variation|October 25, 2019
Novel missense variants in the <i>RNF213</i> gene from a European family with Moyamoya diseaseAndrey N Gagunashvili, Louise Ocaka, Daniel Kelberman, et al.
Human Mutation|December 16, 2014
Functional analysis of FOXE3 mutations causing dominant and recessive ocular anterior segment diseaseLily Islam, Daniel Kelberman, Laura Williamson, et al.
Human Mutation|August 13, 2011
Digenic inheritance of mutations in FOXC1 and PITX2 : correlating transcription factor function and Axenfeld-Rieger disease severityDaniel Kelberman, Lily Islam, Susan E Holder, et al.
Ophthalmology|May 24, 2011
CYP1B1-related anterior segment developmental anomalies novel mutations for infantile glaucoma and von Hippel's ulcer revisitedDaniel Kelberman, Lily Islam, Thomas S Jacques, et al.
Development (Cambridge, England)|March 16, 2007
Lack of the murine homeobox gene Hesx1 leads to a posterior transformation of the anterior forebrainCynthia L Andoniadou, Massimo Signore, Ezat Sajedi, et al.
The Journal of Clinical Endocrinology and Metabolism|February 4, 2011
Increased transactivation associated with SOX3 polyalanine tract deletion in a patient with hypopituitarismKyriaki S Alatzoglou, Daniel Kelberman, Christopher T Cowell, et al.
Disease Models & Mechanisms|December 19, 2008
Analysis of mouse models carrying the I26T and R160C substitutions in the transcriptional repressor HESX1 as models for septo-optic dysplasia and hypopituitarismEzat Sajedi, Carles Gaston-Massuet, Massimo Signore, et al.
Human Mutation|September 16, 2011
SOX2 haploinsufficiency is associated with slow progressing hypothalamo-pituitary tumoursKyriaki S Alatzoglou, Cynthia L Andoniadou, Daniel Kelberman, et al.
Human Molecular Genetics|April 15, 2008
Novel mutations in LHX3 are associated with hypopituitarism and sensorineural hearing lossAnna Rajab, Daniel Kelberman, Sandra C P de Castro, et al.
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