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Han G Brunner

Showing results (211-220 of 318) with videos related to

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Nature Neuroscience|August 2, 2016
Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disabilityStefan H Lelieveld, Margot R F Reijnders, Rolph Pfundt, et al.
American Journal of Human Genetics|November 25, 2003
Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalitiesLisenka E L M Vissers, Bert B A de Vries, Kazutoyo Osoegawa, et al.
Human Mutation|June 6, 2006
Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing lossErsan Kalay, Yun Li, Abdullah Uzumcu, et al.
Nature Genetics|December 7, 2010
CEP152 is a genome maintenance protein disrupted in Seckel syndromeErsan Kalay, Gökhan Yigit, Yakup Aslan, et al.
Journal of Medical Genetics|October 28, 2017
Expanding the clinical spectrum of recessive truncating mutations of <i>KLHL7</i> to a Bohring-Opitz-like phenotypeAnge-Line Bruel, Stefania Bigoni, Joanna Kennedy, et al.
American Journal of Human Genetics|January 9, 2008
Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35Rob W J Collin, Ersan Kalay, Muhammad Tariq, et al.
Nature Medicine|November 23, 2023
Prevalence of chromosomal alterations in first-trimester spontaneous pregnancy lossRick Essers, Igor N Lebedev, Ants Kurg, et al.
European Journal of Human Genetics : EJHG|November 27, 2014
Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrationsCharlotte W Ockeloen, Marjolein H Willemsen, Sonja de Munnik, et al.
American Journal of Human Genetics|May 2, 2017
Duplicated Enhancer Region Increases Expression of CTSB and Segregates with Keratolytic Winter Erythema in South African and Norwegian FamiliesThandiswa Ngcungcu, Martin Oti, Jan C Sitek, et al.
Science (New York, N.Y.)|January 5, 2008
Mutations in the pericentrin (PCNT) gene cause primordial dwarfismAnita Rauch, Christian T Thiel, Detlev Schindler, et al.
Pageof 32

Showing results (211-220 of 318) with videos related to

Sort By:
Pageof 32
Nature Neuroscience|August 2, 2016
Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disabilityStefan H Lelieveld, Margot R F Reijnders, Rolph Pfundt, et al.
American Journal of Human Genetics|November 25, 2003
Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalitiesLisenka E L M Vissers, Bert B A de Vries, Kazutoyo Osoegawa, et al.
Human Mutation|June 6, 2006
Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing lossErsan Kalay, Yun Li, Abdullah Uzumcu, et al.
Nature Genetics|December 7, 2010
CEP152 is a genome maintenance protein disrupted in Seckel syndromeErsan Kalay, Gökhan Yigit, Yakup Aslan, et al.
Journal of Medical Genetics|October 28, 2017
Expanding the clinical spectrum of recessive truncating mutations of <i>KLHL7</i> to a Bohring-Opitz-like phenotypeAnge-Line Bruel, Stefania Bigoni, Joanna Kennedy, et al.
American Journal of Human Genetics|January 9, 2008
Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35Rob W J Collin, Ersan Kalay, Muhammad Tariq, et al.
Nature Medicine|November 23, 2023
Prevalence of chromosomal alterations in first-trimester spontaneous pregnancy lossRick Essers, Igor N Lebedev, Ants Kurg, et al.
European Journal of Human Genetics : EJHG|November 27, 2014
Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrationsCharlotte W Ockeloen, Marjolein H Willemsen, Sonja de Munnik, et al.
American Journal of Human Genetics|May 2, 2017
Duplicated Enhancer Region Increases Expression of CTSB and Segregates with Keratolytic Winter Erythema in South African and Norwegian FamiliesThandiswa Ngcungcu, Martin Oti, Jan C Sitek, et al.
Science (New York, N.Y.)|January 5, 2008
Mutations in the pericentrin (PCNT) gene cause primordial dwarfismAnita Rauch, Christian T Thiel, Detlev Schindler, et al.
Pageof 32