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Human Molecular Genetics
|
August 14, 2003
Development of a comparative genomic hybridization microarray and demonstration of its utility with 25 well-characterized 1p36 deletions
Wei Yu, Blake C Ballif, Catherine D Kashork, et al.
Human Molecular Genetics
|
July 7, 2011
Diverse mutational mechanisms cause pathogenic subtelomeric rearrangements
Yue Luo, Karen E Hermetz, Jodi M Jackson, et al.
European Journal of Human Genetics : EJHG
|
July 1, 2010
Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader-Willi syndrome
Angela L Duker, Blake C Ballif, Erawati V Bawle, et al.
European Journal of Human Genetics : EJHG
|
April 27, 2005
Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki-Shaffer syndrome
Keiko Wakui, Giuliana Gregato, Blake C Ballif, et al.
European Journal of Human Genetics : EJHG
|
October 16, 2004
Delineation of mechanisms and regions of dosage imbalance in complex rearrangements of 1p36 leads to a putative gene for regulation of cranial suture closure
Marzena Gajecka, Wei Yu, Blake C Ballif, et al.
American Journal of Medical Genetics. Part A
|
August 8, 2006
Identification of a novel polymorphism--the duplication of the NPHP1 (nephronophthisis 1) gene
Hagit Baris, Bassem A Bejjani, Wen-Hann Tan, et al.
American Journal of Medical Genetics. Part A
|
November 19, 2013
Phenotypic and molecular characterization of 19q12q13.1 deletions: a report of five patients
Shimul Chowdhury, Anne M Bandholz, Sandhya Parkash, et al.
Plos One
|
September 1, 2010
A genotype-first approach for the molecular and clinical characterization of uncommon de novo microdeletion of 20q13.33
Ryan N Traylor, Damien L Bruno, Trent Burgess, et al.
American Journal of Medical Genetics. Part A
|
March 11, 2015
Clinical features associated with copy number variations of the 14q32 imprinted gene cluster
Jill A Rosenfeld, Joyce E Fox, Maria Descartes, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 26, 2009
Genotype-phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations
Jill A Rosenfeld, Kathleen Leppig, Blake C Ballif, et al.
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of 9
Search research articles
Search
Showing results (51-60 of 83) with videos related to
Sort By:
Page
of 9
Human Molecular Genetics
|
August 14, 2003
Development of a comparative genomic hybridization microarray and demonstration of its utility with 25 well-characterized 1p36 deletions
Wei Yu, Blake C Ballif, Catherine D Kashork, et al.
Human Molecular Genetics
|
July 7, 2011
Diverse mutational mechanisms cause pathogenic subtelomeric rearrangements
Yue Luo, Karen E Hermetz, Jodi M Jackson, et al.
European Journal of Human Genetics : EJHG
|
July 1, 2010
Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader-Willi syndrome
Angela L Duker, Blake C Ballif, Erawati V Bawle, et al.
European Journal of Human Genetics : EJHG
|
April 27, 2005
Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki-Shaffer syndrome
Keiko Wakui, Giuliana Gregato, Blake C Ballif, et al.
European Journal of Human Genetics : EJHG
|
October 16, 2004
Delineation of mechanisms and regions of dosage imbalance in complex rearrangements of 1p36 leads to a putative gene for regulation of cranial suture closure
Marzena Gajecka, Wei Yu, Blake C Ballif, et al.
American Journal of Medical Genetics. Part A
|
August 8, 2006
Identification of a novel polymorphism--the duplication of the NPHP1 (nephronophthisis 1) gene
Hagit Baris, Bassem A Bejjani, Wen-Hann Tan, et al.
American Journal of Medical Genetics. Part A
|
November 19, 2013
Phenotypic and molecular characterization of 19q12q13.1 deletions: a report of five patients
Shimul Chowdhury, Anne M Bandholz, Sandhya Parkash, et al.
Plos One
|
September 1, 2010
A genotype-first approach for the molecular and clinical characterization of uncommon de novo microdeletion of 20q13.33
Ryan N Traylor, Damien L Bruno, Trent Burgess, et al.
American Journal of Medical Genetics. Part A
|
March 11, 2015
Clinical features associated with copy number variations of the 14q32 imprinted gene cluster
Jill A Rosenfeld, Joyce E Fox, Maria Descartes, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 26, 2009
Genotype-phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations
Jill A Rosenfeld, Kathleen Leppig, Blake C Ballif, et al.
Page
of 9