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Journal of Pediatric Endocrinology & Metabolism : JPEM
|
December 14, 2023
Intrafamilial phenotypic heterogeneity in siblings with pseudohypoparathyroidism 1B due to maternal <i>STX16</i> deletion
John Odom, Carlos A Bacino, Lefkothea P Karaviti, et al.
American Journal of Medical Genetics. Part A
|
June 1, 2021
A rare description of pure partial trisomy of 16q12.2q24.3 and review of the literature
Joshua Manor, Daniela Dinu, Mahshid S Azamian, et al.
Zhongguo Yi Liao Qi Xie Za Zhi = Chinese Journal of Medical Instrumentation
|
March 3, 2011
[Measurement of the irregular retinal lesion area based on the back propagation neural network method]
Yongxin Guo, Weimin Bi, Guangyu Zhang, et al.
Plos Genetics
|
September 9, 2011
Increased RPA1 gene dosage affects genomic stability potentially contributing to 17p13.3 duplication syndrome
Emily Outwin, Gillian Carpenter, Weimin Bi, et al.
American Journal of Medical Genetics. Part A
|
April 15, 2025
A Case of Prader-Willi Syndrome With a Deletion Including MAGEL2, NDN, and MKRN3, but Excluding SNRPN and SNORD116
Jannis Buecking, Yu An, Weimin Bi, et al.
American Journal of Medical Genetics. Part A
|
April 29, 2010
A homozygous deletion of 8q24.3 including the NIBP gene associated with severe developmental delay, dysgenesis of the corpus callosum, and dysmorphic facial features
Arie Koifman, Annette Feigenbaum, Weimin Bi, et al.
Prenatal Diagnosis
|
July 3, 2016
Comparison of three whole genome amplification methods for detection of genomic aberrations in single cells
Elizabeth Normand, Sadeem Qdaisat, Weimin Bi, et al.
American Journal of Medical Genetics. Part A
|
March 10, 2025
Unraveling the Molecular and Clinical Consequences of an Intragenic TRIP12 Duplication Using Genomic and RNA Analyses
Haowei Du, Przemyslaw Szafranski, Amanda Gerard, et al.
European Journal of Medical Genetics
|
November 6, 2018
Amish nemaline myopathy and dilated cardiomyopathy caused by a homozygous contiguous gene deletion of TNNT1 and TNNI3 in a Mennonite child
Haley Streff, Weimin Bi, Athos G Colón, et al.
Human Molecular Genetics
|
March 5, 2005
Inactivation of Rai1 in mice recapitulates phenotypes observed in chromosome engineered mouse models for Smith-Magenis syndrome
Weimin Bi, Tomoko Ohyama, Hisashi Nakamura, et al.
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of 14
Search research articles
Search
Showing results (11-20 of 138) with videos related to
Sort By:
Page
of 14
Journal of Pediatric Endocrinology & Metabolism : JPEM
|
December 14, 2023
Intrafamilial phenotypic heterogeneity in siblings with pseudohypoparathyroidism 1B due to maternal <i>STX16</i> deletion
John Odom, Carlos A Bacino, Lefkothea P Karaviti, et al.
American Journal of Medical Genetics. Part A
|
June 1, 2021
A rare description of pure partial trisomy of 16q12.2q24.3 and review of the literature
Joshua Manor, Daniela Dinu, Mahshid S Azamian, et al.
Zhongguo Yi Liao Qi Xie Za Zhi = Chinese Journal of Medical Instrumentation
|
March 3, 2011
[Measurement of the irregular retinal lesion area based on the back propagation neural network method]
Yongxin Guo, Weimin Bi, Guangyu Zhang, et al.
Plos Genetics
|
September 9, 2011
Increased RPA1 gene dosage affects genomic stability potentially contributing to 17p13.3 duplication syndrome
Emily Outwin, Gillian Carpenter, Weimin Bi, et al.
American Journal of Medical Genetics. Part A
|
April 15, 2025
A Case of Prader-Willi Syndrome With a Deletion Including MAGEL2, NDN, and MKRN3, but Excluding SNRPN and SNORD116
Jannis Buecking, Yu An, Weimin Bi, et al.
American Journal of Medical Genetics. Part A
|
April 29, 2010
A homozygous deletion of 8q24.3 including the NIBP gene associated with severe developmental delay, dysgenesis of the corpus callosum, and dysmorphic facial features
Arie Koifman, Annette Feigenbaum, Weimin Bi, et al.
Prenatal Diagnosis
|
July 3, 2016
Comparison of three whole genome amplification methods for detection of genomic aberrations in single cells
Elizabeth Normand, Sadeem Qdaisat, Weimin Bi, et al.
American Journal of Medical Genetics. Part A
|
March 10, 2025
Unraveling the Molecular and Clinical Consequences of an Intragenic TRIP12 Duplication Using Genomic and RNA Analyses
Haowei Du, Przemyslaw Szafranski, Amanda Gerard, et al.
European Journal of Medical Genetics
|
November 6, 2018
Amish nemaline myopathy and dilated cardiomyopathy caused by a homozygous contiguous gene deletion of TNNT1 and TNNI3 in a Mennonite child
Haley Streff, Weimin Bi, Athos G Colón, et al.
Human Molecular Genetics
|
March 5, 2005
Inactivation of Rai1 in mice recapitulates phenotypes observed in chromosome engineered mouse models for Smith-Magenis syndrome
Weimin Bi, Tomoko Ohyama, Hisashi Nakamura, et al.
Page
of 14