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American Journal of Medical Genetics. Part A
|
October 14, 2005
A girl with partial trisomy 12q24.31 inherited from her father and a possible novel syndrome transmitted from her mother
Liming Bao, Elizabeth K Schorry
Journal of Pediatric Orthopedics
|
May 4, 2006
Neurofibromatosis update
Alvin H Crawford, Elizabeth K Schorry
American Journal of Medical Genetics. Part A
|
January 26, 2005
Valproate embryopathy: clinical and cognitive profile in 5 siblings
Elizabeth K Schorry, Sonya G Oppenheimer, Howard M Saal
Neurology. Genetics
|
July 22, 2024
Compound Heterozygous Variants of <i>GOSR2</i> Associated With Congenital Muscular Dystrophy and Progressive Myoclonus Epilepsy: A Case Report
Monica S Arroyo, Christine Fuller, Elizabeth K Schorry, et al.
Clinical Epigenetics
|
January 12, 2020
KMT2C/D COMPASS complex-associated diseases [K<sub>CD</sub>COM-ADs]: an emerging class of congenital regulopathies
William J Lavery, Artem Barski, Susan Wiley, et al.
American Journal of Medical Genetics. Part A
|
April 23, 2003
Long-term survival in a patient with del(18)(q12.2q21.1)
Brad T Tinkle, Carol A Christianson, Elizabeth K Schorry, et al.
American Journal of Medical Genetics. Part A
|
November 12, 2005
Epidemiology of hemimegalencephaly: a case series and review
Brad T Tinkle, Elizabeth K Schorry, David N Franz, et al.
American Journal of Medical Genetics. Part A
|
January 16, 2007
A new case of de novo 11q duplication in a patient with normal development and intelligence and review of the literature
Yuri A Zarate, Jillene M Kogan, Elizabeth K Schorry, et al.
American Journal of Medical Genetics. Part A
|
May 14, 2011
Lethal presentation of neurofibromatosis and Noonan syndrome
Carlos E Prada, Yuri A Zarate, Sean Hagenbuch, et al.
Spine
|
May 18, 2013
Does the presence of dystrophic features in patients with type 1 neurofibromatosis and spinal deformities increase the risk of surgery?
Marios G Lykissas, Elizabeth K Schorry, Alvin H Crawford, et al.
Page
of 5
Search research articles
Search
Showing results (1-10 of 42) with videos related to
Sort By:
Page
of 5
American Journal of Medical Genetics. Part A
|
October 14, 2005
A girl with partial trisomy 12q24.31 inherited from her father and a possible novel syndrome transmitted from her mother
Liming Bao, Elizabeth K Schorry
Journal of Pediatric Orthopedics
|
May 4, 2006
Neurofibromatosis update
Alvin H Crawford, Elizabeth K Schorry
American Journal of Medical Genetics. Part A
|
January 26, 2005
Valproate embryopathy: clinical and cognitive profile in 5 siblings
Elizabeth K Schorry, Sonya G Oppenheimer, Howard M Saal
Neurology. Genetics
|
July 22, 2024
Compound Heterozygous Variants of <i>GOSR2</i> Associated With Congenital Muscular Dystrophy and Progressive Myoclonus Epilepsy: A Case Report
Monica S Arroyo, Christine Fuller, Elizabeth K Schorry, et al.
Clinical Epigenetics
|
January 12, 2020
KMT2C/D COMPASS complex-associated diseases [K<sub>CD</sub>COM-ADs]: an emerging class of congenital regulopathies
William J Lavery, Artem Barski, Susan Wiley, et al.
American Journal of Medical Genetics. Part A
|
April 23, 2003
Long-term survival in a patient with del(18)(q12.2q21.1)
Brad T Tinkle, Carol A Christianson, Elizabeth K Schorry, et al.
American Journal of Medical Genetics. Part A
|
November 12, 2005
Epidemiology of hemimegalencephaly: a case series and review
Brad T Tinkle, Elizabeth K Schorry, David N Franz, et al.
American Journal of Medical Genetics. Part A
|
January 16, 2007
A new case of de novo 11q duplication in a patient with normal development and intelligence and review of the literature
Yuri A Zarate, Jillene M Kogan, Elizabeth K Schorry, et al.
American Journal of Medical Genetics. Part A
|
May 14, 2011
Lethal presentation of neurofibromatosis and Noonan syndrome
Carlos E Prada, Yuri A Zarate, Sean Hagenbuch, et al.
Spine
|
May 18, 2013
Does the presence of dystrophic features in patients with type 1 neurofibromatosis and spinal deformities increase the risk of surgery?
Marios G Lykissas, Elizabeth K Schorry, Alvin H Crawford, et al.
Page
of 5