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H G Brunner

Showing results (171-180 of 179) with videos related to

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Journal of Medical Genetics|March 7, 2009
Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotypeT Kleefstra, W A van Zelst-Stams, W M Nillesen, et al.
Journal of Dental Research|November 12, 2016
Novel IRF6 Mutations Detected in Orofacial Cleft Patients by Targeted Massively Parallel SequencingK D Khandelwal, N Ishorst, H Zhou, et al.
Journal of Medical Genetics|January 8, 2008
Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesisB W M van Bon, D A Koolen, R Borgatti, et al.
NPJ Genomic Medicine|November 16, 2021
Pathogenic neurofibromatosis type 1 (NF1) RNA splicing resolved by targeted RNAseqR Koster, R D Brandão, D Tserpelis, et al.
Journal of Medical Genetics|April 7, 2009
Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and functionF Lacbawan, B D Solomon, E Roessler, et al.
Journal of Medical Genetics|July 17, 2008
Clinical and molecular delineation of the 17q21.31 microdeletion syndromeD A Koolen, A J Sharp, J A Hurst, et al.
Clinical Genetics|January 17, 2013
MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype studyP Makrythanasis, B W van Bon, M Steehouwer, et al.
Cell|November 24, 2001
LDL receptor-related protein 5 (LRP5) affects bone accrual and eye developmentY Gong, R B Slee, N Fukai, et al.
Journal of Medical Genetics|April 18, 2009
Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcomeB W M van Bon, H C Mefford, B Menten, et al.
Pageof 18

Showing results (171-180 of 179) with videos related to

Sort By:
Pageof 18
You have reached the last page of results.This site can display upto 179 results.
Journal of Medical Genetics|March 7, 2009
Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotypeT Kleefstra, W A van Zelst-Stams, W M Nillesen, et al.
Journal of Dental Research|November 12, 2016
Novel IRF6 Mutations Detected in Orofacial Cleft Patients by Targeted Massively Parallel SequencingK D Khandelwal, N Ishorst, H Zhou, et al.
Journal of Medical Genetics|January 8, 2008
Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesisB W M van Bon, D A Koolen, R Borgatti, et al.
NPJ Genomic Medicine|November 16, 2021
Pathogenic neurofibromatosis type 1 (NF1) RNA splicing resolved by targeted RNAseqR Koster, R D Brandão, D Tserpelis, et al.
Journal of Medical Genetics|April 7, 2009
Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and functionF Lacbawan, B D Solomon, E Roessler, et al.
Journal of Medical Genetics|July 17, 2008
Clinical and molecular delineation of the 17q21.31 microdeletion syndromeD A Koolen, A J Sharp, J A Hurst, et al.
Clinical Genetics|January 17, 2013
MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype studyP Makrythanasis, B W van Bon, M Steehouwer, et al.
Cell|November 24, 2001
LDL receptor-related protein 5 (LRP5) affects bone accrual and eye developmentY Gong, R B Slee, N Fukai, et al.
Journal of Medical Genetics|April 18, 2009
Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcomeB W M van Bon, H C Mefford, B Menten, et al.
Pageof 18