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American Journal of Medical Genetics. Part A
|
February 6, 2019
Isolated vocal cord paralysis in two siblings with compound heterozygous variants in MUSK: Expanding the phenotypic spectrum
Chaya Murali, Dong Li, Katheryn Grand, 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.
SAGE Open Medical Case Reports
|
April 4, 2022
Congenital hyperinsulinism in a newborn presenting with poor feeding
Kiran Mazloom, Pedro A Sanchez-Lara, Seth Langston, et al.
Pediatric Cardiology
|
February 15, 2023
Sudden Cardiac Arrest During a Sedated Cardiac Magnetic Resonance Study in a Nonsyndromic Child with Evolving Supravalvar Aortic Stenosis Due to Familial ELN Mutation
Dor Markush, Pedro A Sanchez-Lara, Katheryn Grand, et al.
Pediatrics
|
August 2, 2024
A Reversible Etiology of Progressive Motor Decline in a Previously Healthy Child
Tal Eliav, Deandra Kuruppu, Pedro A Sanchez-Lara, et al.
American Journal of Medical Genetics. Part A
|
November 28, 2020
Expanding the phenotypic spectrum of RPL13-related skeletal dysplasia
Breann Reinsch, Katheryn Grand, Ralph S Lachman, et al.
American Journal of Medical Genetics. Part A
|
May 7, 2021
Pediatric Cushing syndrome: An early sign of an underling cancer predisposition syndrome
Bahareh M Schweiger, Chaya L Esakhan, David Frishberg, et al.
American Journal of Medical Genetics. Part A
|
May 29, 2021
Whole genome sequencing identifies a cryptic SOX9 regulatory element duplication underlying a case of 46,XX ovotesticular difference of sexual development
Zhiyu Qian, Katheryn Grand, Andrew Freedman, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
November 19, 2019
The NuRD complex and macrocephaly associated neurodevelopmental disorders
Tyler Mark Pierson, Maria G Otero, Katheryn Grand, et al.
American Journal of Medical Genetics. Part A
|
October 3, 2018
Association of hypocalcemia with congenital heart disease in 22q11.2 deletion syndrome
Arpana Rayannavar, Lorraine E Levitt Katz, Terrence Blaine Crowley, et al.
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of 4
Search research articles
Search
Showing results (1-10 of 40) with videos related to
Sort By:
Page
of 4
American Journal of Medical Genetics. Part A
|
February 6, 2019
Isolated vocal cord paralysis in two siblings with compound heterozygous variants in MUSK: Expanding the phenotypic spectrum
Chaya Murali, Dong Li, Katheryn Grand, 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.
SAGE Open Medical Case Reports
|
April 4, 2022
Congenital hyperinsulinism in a newborn presenting with poor feeding
Kiran Mazloom, Pedro A Sanchez-Lara, Seth Langston, et al.
Pediatric Cardiology
|
February 15, 2023
Sudden Cardiac Arrest During a Sedated Cardiac Magnetic Resonance Study in a Nonsyndromic Child with Evolving Supravalvar Aortic Stenosis Due to Familial ELN Mutation
Dor Markush, Pedro A Sanchez-Lara, Katheryn Grand, et al.
Pediatrics
|
August 2, 2024
A Reversible Etiology of Progressive Motor Decline in a Previously Healthy Child
Tal Eliav, Deandra Kuruppu, Pedro A Sanchez-Lara, et al.
American Journal of Medical Genetics. Part A
|
November 28, 2020
Expanding the phenotypic spectrum of RPL13-related skeletal dysplasia
Breann Reinsch, Katheryn Grand, Ralph S Lachman, et al.
American Journal of Medical Genetics. Part A
|
May 7, 2021
Pediatric Cushing syndrome: An early sign of an underling cancer predisposition syndrome
Bahareh M Schweiger, Chaya L Esakhan, David Frishberg, et al.
American Journal of Medical Genetics. Part A
|
May 29, 2021
Whole genome sequencing identifies a cryptic SOX9 regulatory element duplication underlying a case of 46,XX ovotesticular difference of sexual development
Zhiyu Qian, Katheryn Grand, Andrew Freedman, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
November 19, 2019
The NuRD complex and macrocephaly associated neurodevelopmental disorders
Tyler Mark Pierson, Maria G Otero, Katheryn Grand, et al.
American Journal of Medical Genetics. Part A
|
October 3, 2018
Association of hypocalcemia with congenital heart disease in 22q11.2 deletion syndrome
Arpana Rayannavar, Lorraine E Levitt Katz, Terrence Blaine Crowley, et al.
Page
of 4