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Molecular Genetics and Metabolism
|
April 13, 2016
Terminal microdeletions of 13q34 chromosome region in patients with intellectual disability: Delineation of an emerging new microdeletion syndrome
Eyal Reinstein, Meytal Liberman, Michal Feingold-Zadok, et al.
Frontiers in Pharmacology
|
January 9, 2023
A <i>KCNB1</i> gain of function variant causes developmental delay and speech apraxia but not seizures
Emma L Veale, Alessia Golluscio, Katheryn Grand, et al.
American Journal of Medical Genetics. Part A
|
July 29, 2018
A case of severe TBCE-negative hypoparathyroidism-retardation-dysmorphism syndrome: Case report and literature review
Anna Ryabets-Lienhard, Satja Issaranggoon Na Ayuthaya, John M Graham, et al.
American Journal of Medical Genetics. Part A
|
January 7, 2009
Elements of morphology: standard terminology for the periorbital region
Bryan D Hall, John M Graham, Suzanne B Cassidy, et al.
Clinical Pediatrics
|
September 5, 2013
Advances in Hirschsprung disease genetics and treatment strategies: an update for the primary care pediatrician
Deepika D'Cunha Burkardt, John M Graham, Scott S Short, et al.
American Journal of Medical Genetics. Part A
|
April 4, 2003
van den Ende-Gupta syndrome of blepharophimosis, arachnodactyly, and congenital contractures: clinical delineation and recurrence in brothers
Daniela N Schweitzer, Ralph S Lachman, Barry D Pressman, et al.
American Journal of Medical Genetics. Part A
|
September 19, 2012
Growth retardation, intellectual disability, facial anomalies, cataract, thoracic hypoplasia, and skeletal abnormalities: a novel phenotype
Hitesh Shah, Susanne Bens, Almuth Caliebe, et al.
The Journal of Pediatrics
|
February 4, 2005
Deformational brachycephaly in supine-sleeping infants
John M Graham, Jeannie Kreutzman, Dawn Earl, et al.
American Journal of Medical Genetics. Part A
|
November 16, 2007
The morphogenesis of wormian bones: a study of craniosynostosis and purposeful cranial deformation
Pedro A Sanchez-Lara, John M Graham, Anne V Hing, et al.
Journal of Neurosurgery. Case Lessons
|
July 20, 2022
Spontaneous intracranial hypotension secondary to congenital spinal dural ectasia and genetic mosaicism for tetrasomy 10p: illustrative case
Peyton L Nisson, Rhona Schreck, John M Graham, et al.
Page
of 21
Search research articles
Search
Showing results (81-90 of 208) with videos related to
Sort By:
Page
of 21
Molecular Genetics and Metabolism
|
April 13, 2016
Terminal microdeletions of 13q34 chromosome region in patients with intellectual disability: Delineation of an emerging new microdeletion syndrome
Eyal Reinstein, Meytal Liberman, Michal Feingold-Zadok, et al.
Frontiers in Pharmacology
|
January 9, 2023
A <i>KCNB1</i> gain of function variant causes developmental delay and speech apraxia but not seizures
Emma L Veale, Alessia Golluscio, Katheryn Grand, et al.
American Journal of Medical Genetics. Part A
|
July 29, 2018
A case of severe TBCE-negative hypoparathyroidism-retardation-dysmorphism syndrome: Case report and literature review
Anna Ryabets-Lienhard, Satja Issaranggoon Na Ayuthaya, John M Graham, et al.
American Journal of Medical Genetics. Part A
|
January 7, 2009
Elements of morphology: standard terminology for the periorbital region
Bryan D Hall, John M Graham, Suzanne B Cassidy, et al.
Clinical Pediatrics
|
September 5, 2013
Advances in Hirschsprung disease genetics and treatment strategies: an update for the primary care pediatrician
Deepika D'Cunha Burkardt, John M Graham, Scott S Short, et al.
American Journal of Medical Genetics. Part A
|
April 4, 2003
van den Ende-Gupta syndrome of blepharophimosis, arachnodactyly, and congenital contractures: clinical delineation and recurrence in brothers
Daniela N Schweitzer, Ralph S Lachman, Barry D Pressman, et al.
American Journal of Medical Genetics. Part A
|
September 19, 2012
Growth retardation, intellectual disability, facial anomalies, cataract, thoracic hypoplasia, and skeletal abnormalities: a novel phenotype
Hitesh Shah, Susanne Bens, Almuth Caliebe, et al.
The Journal of Pediatrics
|
February 4, 2005
Deformational brachycephaly in supine-sleeping infants
John M Graham, Jeannie Kreutzman, Dawn Earl, et al.
American Journal of Medical Genetics. Part A
|
November 16, 2007
The morphogenesis of wormian bones: a study of craniosynostosis and purposeful cranial deformation
Pedro A Sanchez-Lara, John M Graham, Anne V Hing, et al.
Journal of Neurosurgery. Case Lessons
|
July 20, 2022
Spontaneous intracranial hypotension secondary to congenital spinal dural ectasia and genetic mosaicism for tetrasomy 10p: illustrative case
Peyton L Nisson, Rhona Schreck, John M Graham, et al.
Page
of 21