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Human Molecular Genetics
|
May 23, 2002
Discordant KCNQ1OT1 imprinting in sets of monozygotic twins discordant for Beckwith-Wiedemann syndrome
Rosanna Weksberg, Cheryl Shuman, Oana Caluseriu, et al.
Journal of Medical Genetics
|
March 25, 2011
Euchromatic 9q13-q21 duplication variants are tandem segmental amplifications of sequence reciprocal to 9q13-q21 deletions
Ann M Joseph-George, Yongshu He, Christian R Marshall, et al.
American Journal of Medical Genetics. Part A
|
July 2, 2003
X-linked Opitz syndrome: novel mutations in the MID1 gene and redefinition of the clinical spectrum
Francesca De Falco, Silvia Cainarca, Grazia Andolfi, et al.
American Journal of Human Genetics
|
June 5, 2018
TRPV6 Variants Interfere with Maternal-Fetal Calcium Transport through the Placenta and Cause Transient Neonatal Hyperparathyroidism
Yoshiro Suzuki, David Chitayat, Hirotake Sawada, et al.
Genomics
|
February 7, 2002
Molecular genetic studies of human chromosome 7 in Russell-Silver syndrome
Kazuhiko Nakabayashi, Bridget A Fernandez, Ikuko Teshima, et al.
American Journal of Human Genetics
|
October 1, 2013
Recessive and dominant mutations in retinoic acid receptor beta in cases with microphthalmia and diaphragmatic hernia
Myriam Srour, David Chitayat, Véronique Caron, et al.
The Journal of Clinical Endocrinology and Metabolism
|
June 14, 2021
Mild Idiopathic Infantile Hypercalcemia-Part 1: Biochemical and Genetic Findings
Nina Lenherr-Taube, Edwin J Young, Michelle Furman, et al.
Journal of Medical Genetics
|
May 18, 2010
Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population
Gail Billingsley, Jenea Bin, Karen J Fieggen, et al.
American Journal of Medical Genetics. Part A
|
February 24, 2023
Diagnosis of TBC1D32-associated conditions: Expanding the phenotypic spectrum of a complex ciliopathy
Sarah C Harris, Karen Chong, David Chitayat, et al.
Circulation Research
|
June 28, 2022
KMT2D-NOTCH Mediates Coronary Abnormalities in Hypoplastic Left Heart Syndrome
Zhiyun Yu, Xin Zhou, Ziyi Liu, et al.
Page
of 36
Search research articles
Search
Showing results (251-260 of 354) with videos related to
Sort By:
Page
of 36
Human Molecular Genetics
|
May 23, 2002
Discordant KCNQ1OT1 imprinting in sets of monozygotic twins discordant for Beckwith-Wiedemann syndrome
Rosanna Weksberg, Cheryl Shuman, Oana Caluseriu, et al.
Journal of Medical Genetics
|
March 25, 2011
Euchromatic 9q13-q21 duplication variants are tandem segmental amplifications of sequence reciprocal to 9q13-q21 deletions
Ann M Joseph-George, Yongshu He, Christian R Marshall, et al.
American Journal of Medical Genetics. Part A
|
July 2, 2003
X-linked Opitz syndrome: novel mutations in the MID1 gene and redefinition of the clinical spectrum
Francesca De Falco, Silvia Cainarca, Grazia Andolfi, et al.
American Journal of Human Genetics
|
June 5, 2018
TRPV6 Variants Interfere with Maternal-Fetal Calcium Transport through the Placenta and Cause Transient Neonatal Hyperparathyroidism
Yoshiro Suzuki, David Chitayat, Hirotake Sawada, et al.
Genomics
|
February 7, 2002
Molecular genetic studies of human chromosome 7 in Russell-Silver syndrome
Kazuhiko Nakabayashi, Bridget A Fernandez, Ikuko Teshima, et al.
American Journal of Human Genetics
|
October 1, 2013
Recessive and dominant mutations in retinoic acid receptor beta in cases with microphthalmia and diaphragmatic hernia
Myriam Srour, David Chitayat, Véronique Caron, et al.
The Journal of Clinical Endocrinology and Metabolism
|
June 14, 2021
Mild Idiopathic Infantile Hypercalcemia-Part 1: Biochemical and Genetic Findings
Nina Lenherr-Taube, Edwin J Young, Michelle Furman, et al.
Journal of Medical Genetics
|
May 18, 2010
Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population
Gail Billingsley, Jenea Bin, Karen J Fieggen, et al.
American Journal of Medical Genetics. Part A
|
February 24, 2023
Diagnosis of TBC1D32-associated conditions: Expanding the phenotypic spectrum of a complex ciliopathy
Sarah C Harris, Karen Chong, David Chitayat, et al.
Circulation Research
|
June 28, 2022
KMT2D-NOTCH Mediates Coronary Abnormalities in Hypoplastic Left Heart Syndrome
Zhiyun Yu, Xin Zhou, Ziyi Liu, et al.
Page
of 36