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American Journal of Medical Genetics. Part A
|
February 13, 2013
A cost savings approach to SPRED1 mutational analysis in individuals at risk for neurofibromatosis type 1
Talia M Muram, David A Stevenson, Sarah Watts-Justice, et al.
American Journal of Medical Genetics. Part A
|
August 16, 2014
Neural tube defects and atypical deletion on 22q11.2
Chiara Leoni, David A Stevenson, Katherine B Geiersbach, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 1, 2023
Frequency of epistaxis and telangiectasia in patients with hereditary hemorrhagic telangiectasia (HHT) in comparison with the general population: Curaçao diagnostic criteria revisited
Jamie McDonald, Jenna Kornish, David A Stevenson, et al.
Pediatric Neurology
|
August 7, 2018
Use of Flow Cytometry for Diagnosis of Epilepsy Associated With Homozygous PIGW Variants
Gretchen Kissel Foskett, Edgar Engleman, Jenna Klotz, et al.
Otolaryngology--Head and Neck Surgery : Official Journal of American Academy of Otolaryngology-Head and Neck Surgery
|
October 28, 2011
Hemangioma is associated with atopic disease
J Fredrik Grimmer, Marc S Williams, Richard Pimentel, et al.
Neurology
|
August 26, 2016
NALCN channelopathies: Distinguishing gain-of-function and loss-of-function mutations
Eric G Bend, Yue Si, David A Stevenson, et al.
American Journal of Medical Genetics. Part A
|
December 21, 2018
Contributing factors of mortality in Prader-Willi syndrome
Jennifer Proffitt, Kathryn Osann, Barbara McManus, et al.
American Journal of Medical Genetics. Part A
|
August 12, 2011
Molecular confirmation of HRAS p.G12S in siblings with Costello syndrome
Karen W Gripp, Deborah L Stabley, Peter L Geller, et al.
Journal of the American Academy of Dermatology
|
April 7, 2023
Papillomas of Costello syndrome are not associated with human papillomavirus infection in a small case series
Gerilyn M Olsen, Luke Johnson, Pau Castel, et al.
Obesity Surgery
|
August 30, 2011
Letter to the editor: Long-term experience with duodenal switch in adolescents
Ann O Scheimann, Merlin G Butler, Jennifer L Miller, et al.
Page
of 17
Search research articles
Search
Showing results (61-70 of 166) with videos related to
Sort By:
Page
of 17
American Journal of Medical Genetics. Part A
|
February 13, 2013
A cost savings approach to SPRED1 mutational analysis in individuals at risk for neurofibromatosis type 1
Talia M Muram, David A Stevenson, Sarah Watts-Justice, et al.
American Journal of Medical Genetics. Part A
|
August 16, 2014
Neural tube defects and atypical deletion on 22q11.2
Chiara Leoni, David A Stevenson, Katherine B Geiersbach, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 1, 2023
Frequency of epistaxis and telangiectasia in patients with hereditary hemorrhagic telangiectasia (HHT) in comparison with the general population: Curaçao diagnostic criteria revisited
Jamie McDonald, Jenna Kornish, David A Stevenson, et al.
Pediatric Neurology
|
August 7, 2018
Use of Flow Cytometry for Diagnosis of Epilepsy Associated With Homozygous PIGW Variants
Gretchen Kissel Foskett, Edgar Engleman, Jenna Klotz, et al.
Otolaryngology--Head and Neck Surgery : Official Journal of American Academy of Otolaryngology-Head and Neck Surgery
|
October 28, 2011
Hemangioma is associated with atopic disease
J Fredrik Grimmer, Marc S Williams, Richard Pimentel, et al.
Neurology
|
August 26, 2016
NALCN channelopathies: Distinguishing gain-of-function and loss-of-function mutations
Eric G Bend, Yue Si, David A Stevenson, et al.
American Journal of Medical Genetics. Part A
|
December 21, 2018
Contributing factors of mortality in Prader-Willi syndrome
Jennifer Proffitt, Kathryn Osann, Barbara McManus, et al.
American Journal of Medical Genetics. Part A
|
August 12, 2011
Molecular confirmation of HRAS p.G12S in siblings with Costello syndrome
Karen W Gripp, Deborah L Stabley, Peter L Geller, et al.
Journal of the American Academy of Dermatology
|
April 7, 2023
Papillomas of Costello syndrome are not associated with human papillomavirus infection in a small case series
Gerilyn M Olsen, Luke Johnson, Pau Castel, et al.
Obesity Surgery
|
August 30, 2011
Letter to the editor: Long-term experience with duodenal switch in adolescents
Ann O Scheimann, Merlin G Butler, Jennifer L Miller, et al.
Page
of 17