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American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
October 31, 2025
Comments From the Guest Editors
Melissa Crenshaw, Anne Skakkebæk
Clinical Pediatrics
|
May 7, 2022
Response to Letter to the Editor
Kelli Baldwin, Sara Karjoo, Melissa Crenshaw
Clinical Case Reports
|
April 19, 2019
A patient with Phelan-McDermid syndrome and dilation of the great vessels
Emily Deibert, Melissa Crenshaw, Michelle S Miller
PM & R : the Journal of Injury, Function, and Rehabilitation
|
November 6, 2025
Exploring the relationship between joint hypermobility and chronic pain in youth: Diagnostic challenges and the Beighton Scale
William S Frye, Sydney R Ward, Giovanni Cucchiaro, et al.
Neuromuscular Disorders : NMD
|
January 31, 2022
Hypotonic infant with PURA syndrome-related channelopathy successfully treated with pyridostigmine
Rita Wyrebek, Mara DiBartolomeo, Sandra Brooks, et al.
Neuromuscular Disorders : NMD
|
July 23, 2022
Corrigendum to 'Hypotonic Infant with PURA Syndrome-related Channelopathy Successfully Treated with Pyridostigmine' Neuromuscular Disorders Volume 32, Issue 2, February 2022, Pages 166-169
Rita Wyrebek, Mara Di Bartolomeo, Sandra Brooks, et al.
Neuromuscular Disorders : NMD
|
January 11, 2023
PURA syndrome: Neuromuscular junction manifestations with potential therapeutic implications
Stanley Iyadurai, Thomas Geller, Rita Wyrebek, et al.
Blood Advances
|
June 14, 2019
B-cell acute lymphoblastic leukemia with high mutation burden presenting in a child with constitutional mismatch repair deficiency
Benjamin Oshrine, Nanette Grana, Colin Moore, et al.
Fertility and Sterility
|
February 16, 2016
Proposal for a national registry to monitor women with Turner syndrome seeking assisted reproductive technology
Angela E Lin, Megan F Karnis, Laurel Calderwood, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
January 12, 2019
"Donating our bodies to science": A discussion about autopsy and organ donation in Turner syndrome
Siddharth K Prakash, Adrianna K San Roman, Melissa Crenshaw, et al.
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of 2
Search research articles
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Showing results (1-10 of 13) with videos related to
Sort By:
Page
of 2
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
October 31, 2025
Comments From the Guest Editors
Melissa Crenshaw, Anne Skakkebæk
Clinical Pediatrics
|
May 7, 2022
Response to Letter to the Editor
Kelli Baldwin, Sara Karjoo, Melissa Crenshaw
Clinical Case Reports
|
April 19, 2019
A patient with Phelan-McDermid syndrome and dilation of the great vessels
Emily Deibert, Melissa Crenshaw, Michelle S Miller
PM & R : the Journal of Injury, Function, and Rehabilitation
|
November 6, 2025
Exploring the relationship between joint hypermobility and chronic pain in youth: Diagnostic challenges and the Beighton Scale
William S Frye, Sydney R Ward, Giovanni Cucchiaro, et al.
Neuromuscular Disorders : NMD
|
January 31, 2022
Hypotonic infant with PURA syndrome-related channelopathy successfully treated with pyridostigmine
Rita Wyrebek, Mara DiBartolomeo, Sandra Brooks, et al.
Neuromuscular Disorders : NMD
|
July 23, 2022
Corrigendum to 'Hypotonic Infant with PURA Syndrome-related Channelopathy Successfully Treated with Pyridostigmine' Neuromuscular Disorders Volume 32, Issue 2, February 2022, Pages 166-169
Rita Wyrebek, Mara Di Bartolomeo, Sandra Brooks, et al.
Neuromuscular Disorders : NMD
|
January 11, 2023
PURA syndrome: Neuromuscular junction manifestations with potential therapeutic implications
Stanley Iyadurai, Thomas Geller, Rita Wyrebek, et al.
Blood Advances
|
June 14, 2019
B-cell acute lymphoblastic leukemia with high mutation burden presenting in a child with constitutional mismatch repair deficiency
Benjamin Oshrine, Nanette Grana, Colin Moore, et al.
Fertility and Sterility
|
February 16, 2016
Proposal for a national registry to monitor women with Turner syndrome seeking assisted reproductive technology
Angela E Lin, Megan F Karnis, Laurel Calderwood, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
January 12, 2019
"Donating our bodies to science": A discussion about autopsy and organ donation in Turner syndrome
Siddharth K Prakash, Adrianna K San Roman, Melissa Crenshaw, et al.
Page
of 2