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Journal of Medical Genetics
|
June 8, 2021
Mosaic de novo <i>SNRPN</i> gene variant associated with Prader-Willi syndrome
Yue Huang, Katheryn Grand, Virginia Kimonis, et al.
American Journal of Medical Genetics. Part A
|
September 30, 2022
Familial Bainbridge-Ropers syndrome: Report of familial ASXL3 inheritance and a milder phenotype
Schaida Schirwani, Emily Woods, David A Koolen, et al.
American Journal of Medical Genetics. Part A
|
November 1, 2018
The impact of hypocalcemia on full scale IQ in patients with 22q11.2 deletion syndrome
Katheryn Grand, Lorraine E Levitt Katz, T Blaine Crowley, et al.
American Journal of Medical Genetics. Part A
|
April 29, 2021
Thinking outside "The Box": Case-based didactics for medical education and the instructional legacy of Dr John M. Graham, Jr
Pedro A Sanchez-Lara, Katheryn Grand, Maria K Haanpää, et al.
American Journal of Medical Genetics. Part A
|
June 23, 2021
Nonlethal presentations of CYP26B1-related skeletal anomalies and multiple synostoses syndrome
Katheryn Grand, Cara M Skraban, Jennifer L Cohen, et al.
American Journal of Medical Genetics. Part A
|
January 22, 2020
Further delineation of the phenotypic spectrum of nevus comedonicus syndrome to include congenital pulmonary airway malformation of the lung and aneurysm
Sarah E Sheppard, Anna Smith, Katheryn Grand, et al.
Frontiers in Pharmacology
|
January 4, 2021
Identification of an Identical <i>de Novo</i> SCAMP5 Missense Variant in Four Unrelated Patients With Seizures and Severe Neurodevelopmental Delay
Xianru Jiao, Manuela Morleo, Vincenzo Nigro, et al.
American Journal of Medical Genetics. Part A
|
November 16, 2019
Growth hormone deficiency in megalencephaly-capillary malformation syndrome: An association with activating mutations in PIK3CA
Shanlee Davis, Meredith A Ware, Jordan Zeiger, 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.
Neurology. Genetics
|
February 28, 2025
Acid Ceramidase Deficiency: New Insights on SMA-PME Natural History, Biomarkers, and <i>In Cell</i> Enzyme Activity Assay
Silvestre Cuinat, Paul Rollier, Katheryn Grand, et al.
Page
of 4
Search research articles
Search
Showing results (11-20 of 40) with videos related to
Sort By:
Page
of 4
Journal of Medical Genetics
|
June 8, 2021
Mosaic de novo <i>SNRPN</i> gene variant associated with Prader-Willi syndrome
Yue Huang, Katheryn Grand, Virginia Kimonis, et al.
American Journal of Medical Genetics. Part A
|
September 30, 2022
Familial Bainbridge-Ropers syndrome: Report of familial ASXL3 inheritance and a milder phenotype
Schaida Schirwani, Emily Woods, David A Koolen, et al.
American Journal of Medical Genetics. Part A
|
November 1, 2018
The impact of hypocalcemia on full scale IQ in patients with 22q11.2 deletion syndrome
Katheryn Grand, Lorraine E Levitt Katz, T Blaine Crowley, et al.
American Journal of Medical Genetics. Part A
|
April 29, 2021
Thinking outside "The Box": Case-based didactics for medical education and the instructional legacy of Dr John M. Graham, Jr
Pedro A Sanchez-Lara, Katheryn Grand, Maria K Haanpää, et al.
American Journal of Medical Genetics. Part A
|
June 23, 2021
Nonlethal presentations of CYP26B1-related skeletal anomalies and multiple synostoses syndrome
Katheryn Grand, Cara M Skraban, Jennifer L Cohen, et al.
American Journal of Medical Genetics. Part A
|
January 22, 2020
Further delineation of the phenotypic spectrum of nevus comedonicus syndrome to include congenital pulmonary airway malformation of the lung and aneurysm
Sarah E Sheppard, Anna Smith, Katheryn Grand, et al.
Frontiers in Pharmacology
|
January 4, 2021
Identification of an Identical <i>de Novo</i> SCAMP5 Missense Variant in Four Unrelated Patients With Seizures and Severe Neurodevelopmental Delay
Xianru Jiao, Manuela Morleo, Vincenzo Nigro, et al.
American Journal of Medical Genetics. Part A
|
November 16, 2019
Growth hormone deficiency in megalencephaly-capillary malformation syndrome: An association with activating mutations in PIK3CA
Shanlee Davis, Meredith A Ware, Jordan Zeiger, 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.
Neurology. Genetics
|
February 28, 2025
Acid Ceramidase Deficiency: New Insights on SMA-PME Natural History, Biomarkers, and <i>In Cell</i> Enzyme Activity Assay
Silvestre Cuinat, Paul Rollier, Katheryn Grand, et al.
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of 4