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American Journal of Medical Genetics. Part A
|
June 15, 2024
Expanding the phenotype of Harel-Yoon syndrome: A case report suggesting a genotype/phenotype correlation
Jareatha Abdul-Raheem, Elina Nikkola, Zhenbin Chen, et al.
Journal of Clinical Medicine Research
|
October 23, 2018
Fashionably Late: A Case of Delayed Cutaneous Manifestations in Juvenile Dermatomyositis
Maya Antoine, Patrick T Reeves, Luis Rohena, et al.
Journal of Clinical Sleep Medicine : JCSM : Official Publication of the American Academy of Sleep Medicine
|
September 21, 2019
Unexpected Finding of Idiopathic REM Sleep Behavior Disorder in a Young Healthy Male With Snoring: A Case Report
Matthew S Brock, Sean Shirley, Luis Rohena, et al.
American Journal of Medical Genetics. Part A
|
March 12, 2015
Infantile onset Vanishing White Matter disease associated with a novel EIF2B5 variant, remarkably long life span, severe epilepsy, and hypopituitarism
April L Woody, David T Hsieh, Harkirtin K McIver, et al.
American Journal of Medical Genetics. Part A
|
April 27, 2016
Three cases of Troyer syndrome in two families of Filipino descent
Shauna Butler, Katherine L Helbig, Wendy Alcaraz, et al.
American Journal of Medical Genetics. Part A
|
December 25, 2015
FTO variant associated with malformation syndrome
Luis Rohena, Michelle Lawson, Edwin Guzman, et al.
Rare Diseases (Austin, Tex.)
|
July 9, 2014
Mutation in SNAP25 as a novel genetic cause of epilepsy and intellectual disability
Luis Rohena, Julie Neidich, Megan Truitt Cho, et al.
American Journal of Medical Genetics. Part A
|
March 5, 2015
Partial monosomy of 11q22.2q22.3 including the SDHD gene in individuals with developmental delay
Krishna Yelavarthi, Huong Cabral, Golder N Wilson, et al.
Neurogenetics
|
August 5, 2015
Mutations in ARID2 are associated with intellectual disabilities
Linshan Shang, Megan T Cho, Kyle Retterer, et al.
Fetal Diagnosis and Therapy
|
May 23, 2015
New Insights into the Genetics of Fetal Megacystis: ACTG2 Mutations, Encoding γ-2 Smooth Muscle Actin in Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (Berdon Syndrome)
Lea Tuzovic, Sha Tang, Russell S Miller, et al.
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of 4
Search research articles
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Showing results (11-20 of 36) with videos related to
Sort By:
Page
of 4
American Journal of Medical Genetics. Part A
|
June 15, 2024
Expanding the phenotype of Harel-Yoon syndrome: A case report suggesting a genotype/phenotype correlation
Jareatha Abdul-Raheem, Elina Nikkola, Zhenbin Chen, et al.
Journal of Clinical Medicine Research
|
October 23, 2018
Fashionably Late: A Case of Delayed Cutaneous Manifestations in Juvenile Dermatomyositis
Maya Antoine, Patrick T Reeves, Luis Rohena, et al.
Journal of Clinical Sleep Medicine : JCSM : Official Publication of the American Academy of Sleep Medicine
|
September 21, 2019
Unexpected Finding of Idiopathic REM Sleep Behavior Disorder in a Young Healthy Male With Snoring: A Case Report
Matthew S Brock, Sean Shirley, Luis Rohena, et al.
American Journal of Medical Genetics. Part A
|
March 12, 2015
Infantile onset Vanishing White Matter disease associated with a novel EIF2B5 variant, remarkably long life span, severe epilepsy, and hypopituitarism
April L Woody, David T Hsieh, Harkirtin K McIver, et al.
American Journal of Medical Genetics. Part A
|
April 27, 2016
Three cases of Troyer syndrome in two families of Filipino descent
Shauna Butler, Katherine L Helbig, Wendy Alcaraz, et al.
American Journal of Medical Genetics. Part A
|
December 25, 2015
FTO variant associated with malformation syndrome
Luis Rohena, Michelle Lawson, Edwin Guzman, et al.
Rare Diseases (Austin, Tex.)
|
July 9, 2014
Mutation in SNAP25 as a novel genetic cause of epilepsy and intellectual disability
Luis Rohena, Julie Neidich, Megan Truitt Cho, et al.
American Journal of Medical Genetics. Part A
|
March 5, 2015
Partial monosomy of 11q22.2q22.3 including the SDHD gene in individuals with developmental delay
Krishna Yelavarthi, Huong Cabral, Golder N Wilson, et al.
Neurogenetics
|
August 5, 2015
Mutations in ARID2 are associated with intellectual disabilities
Linshan Shang, Megan T Cho, Kyle Retterer, et al.
Fetal Diagnosis and Therapy
|
May 23, 2015
New Insights into the Genetics of Fetal Megacystis: ACTG2 Mutations, Encoding γ-2 Smooth Muscle Actin in Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (Berdon Syndrome)
Lea Tuzovic, Sha Tang, Russell S Miller, et al.
Page
of 4