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Molecular Genetics & Genomic Medicine
|
May 16, 2019
Healthcare burden among individuals with Angelman syndrome: Findings from the Angelman Syndrome Natural History Study
Nasreen Khan, Raquel Cabo, Wen-Hann Tan, et al.
Journal of the American Academy of Dermatology
|
November 14, 2006
Digitocutaneous dysplasia
Arash Izadpanah, Marcia Hogeling, Robert L Buka, et al.
American Journal of Medical Genetics. Part A
|
August 13, 2025
MAX-Related Disorder: Expanding the Phenotype of the Recurrent p.Arg60Gln Variant
Adriana Gomes, Álvaro Martín-Rodríguez, Neil M Shah, et al.
Biological Psychiatry Global Open Science
|
November 29, 2021
Electrophysiological Abnormalities in Angelman Syndrome Correlate With Symptom Severity
Joerg F Hipp, Joel Frohlich, Marius Keute, et al.
American Journal of Medical Genetics. Part A
|
August 31, 2023
Ear anomalies and hearing loss in patients with VACTERL association and the effect of maternal diabetes
Carolina I Galarreta, Erin Hoyt, Laura Forero, et al.
American Journal of Medical Genetics. Part A
|
August 7, 2025
Intestinal Atresia in PPP1R12A-Related Urogenital and Brain Malformation Syndrome
Adriana Gomes, Sanjana Karamcheti, Álvaro Martín Rodriguez, et al.
American Journal of Medical Genetics. Part A
|
May 20, 2004
Marfanoid habitus with abnormal situs
Kenjiro Kosaki, Lynne M Bird, Jun Maeda, et al.
American Journal of Medical Genetics. Part A
|
February 4, 2005
Megalourethra: A report of three cases associated with maternal diabetes and a review of the literature--is sonic hedgehog the common pathway?
Keith K Vaux, Marilyn C Jones, Kurt Benirschke, et al.
American Journal of Medical Genetics. Part A
|
April 1, 2022
A unique pancreatic phenotype in a child with a WDR19-related ciliopathy: A case report and literature review of pancreatic involvement in ciliopathies
Michelle Nguyen Keyser, Maria Huang, Kimberly Newton, et al.
Journal of Pediatric Hematology/Oncology
|
January 14, 2020
Leiomyosarcoma in Birt-Hogg-Dubé Syndrome
Lynne M Bird, Dennis J Kuo, Diane Masser-Frye, et al.
Page
of 12
Search research articles
Search
Showing results (21-30 of 120) with videos related to
Sort By:
Page
of 12
Molecular Genetics & Genomic Medicine
|
May 16, 2019
Healthcare burden among individuals with Angelman syndrome: Findings from the Angelman Syndrome Natural History Study
Nasreen Khan, Raquel Cabo, Wen-Hann Tan, et al.
Journal of the American Academy of Dermatology
|
November 14, 2006
Digitocutaneous dysplasia
Arash Izadpanah, Marcia Hogeling, Robert L Buka, et al.
American Journal of Medical Genetics. Part A
|
August 13, 2025
MAX-Related Disorder: Expanding the Phenotype of the Recurrent p.Arg60Gln Variant
Adriana Gomes, Álvaro Martín-Rodríguez, Neil M Shah, et al.
Biological Psychiatry Global Open Science
|
November 29, 2021
Electrophysiological Abnormalities in Angelman Syndrome Correlate With Symptom Severity
Joerg F Hipp, Joel Frohlich, Marius Keute, et al.
American Journal of Medical Genetics. Part A
|
August 31, 2023
Ear anomalies and hearing loss in patients with VACTERL association and the effect of maternal diabetes
Carolina I Galarreta, Erin Hoyt, Laura Forero, et al.
American Journal of Medical Genetics. Part A
|
August 7, 2025
Intestinal Atresia in PPP1R12A-Related Urogenital and Brain Malformation Syndrome
Adriana Gomes, Sanjana Karamcheti, Álvaro Martín Rodriguez, et al.
American Journal of Medical Genetics. Part A
|
May 20, 2004
Marfanoid habitus with abnormal situs
Kenjiro Kosaki, Lynne M Bird, Jun Maeda, et al.
American Journal of Medical Genetics. Part A
|
February 4, 2005
Megalourethra: A report of three cases associated with maternal diabetes and a review of the literature--is sonic hedgehog the common pathway?
Keith K Vaux, Marilyn C Jones, Kurt Benirschke, et al.
American Journal of Medical Genetics. Part A
|
April 1, 2022
A unique pancreatic phenotype in a child with a WDR19-related ciliopathy: A case report and literature review of pancreatic involvement in ciliopathies
Michelle Nguyen Keyser, Maria Huang, Kimberly Newton, et al.
Journal of Pediatric Hematology/Oncology
|
January 14, 2020
Leiomyosarcoma in Birt-Hogg-Dubé Syndrome
Lynne M Bird, Dennis J Kuo, Diane Masser-Frye, et al.
Page
of 12