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American Journal of Medical Genetics. Part A
|
December 14, 2019
TFE3-associated neurodevelopmental disorder: A distinct recognizable syndrome
Jullianne Diaz, Seth Berger, Eyby Leon
Molecular Syndromology
|
June 28, 2021
Pure Distal 7q Duplication: Describing a Macrocephalic Neurodevelopmental Syndrome, Case Report and Review of the Literature
Kerri Bosfield, Jullianne Diaz, Eyby Leon
American Journal of Medical Genetics. Part A
|
January 4, 2020
Evidence of GMPPA founder mutation in indigenous Guatemalan population associated with alacrima, achalasia, and mental retardation syndrome
Jullianne Diaz, Timothy D Kane, Eyby Leon
American Journal of Medical Genetics. Part A
|
November 26, 2010
Mosaic Down syndrome in a patient with low-level mosaicism detected by microarray
Eyby Leon, Ying S Zou, Jeff M Milunsky
American Journal of Medical Genetics. Part A
|
April 13, 2017
Biotin-thiamine responsive basal ganglia disease: Identification of a pyruvate peak on brain spectroscopy, novel mutation in SLC19A3, and calculation of prevalence based on allele frequencies from aggregated next-generation sequencing data
Carlos R Ferreira, Matthew T Whitehead, Eyby Leon
American Journal of Medical Genetics. Part A
|
July 19, 2019
MAP1B related syndrome: Case presentation and review of literature
Diana M Julca, Jullianne Diaz, Seth Berger, et al.
Translational Science of Rare Diseases
|
April 24, 2018
Extending the phenotypic spectrum of Sengers syndrome: Congenital lactic acidosis with synthetic liver dysfunction
David B Beck, Kristina Cusmano-Ozog, Nickie Andescavage, et al.
American Journal of Medical Genetics. Part A
|
June 15, 2011
Partial trisomy 8 mosaicism due to a pseudoisodicentric chromosome 8
Eyby Leon, Seema M Jamal, Ying S Zou, et al.
Journal of Pediatric Genetics
|
September 15, 2016
RASA1 analysis guides management in a family with capillary malformation-arteriovenous malformation
Leigh Anne Flore, Eyby Leon, Tom A Maher, et al.
American Journal of Medical Genetics. Part A
|
October 20, 2022
ALDH1A2-related disorder: A new genetic syndrome due to alteration of the retinoic acid pathway
Eyby Leon, Claris Nde, Randall S Ray, et al.
Page
of 3
Search research articles
Search
Showing results (1-10 of 30) with videos related to
Sort By:
Page
of 3
American Journal of Medical Genetics. Part A
|
December 14, 2019
TFE3-associated neurodevelopmental disorder: A distinct recognizable syndrome
Jullianne Diaz, Seth Berger, Eyby Leon
Molecular Syndromology
|
June 28, 2021
Pure Distal 7q Duplication: Describing a Macrocephalic Neurodevelopmental Syndrome, Case Report and Review of the Literature
Kerri Bosfield, Jullianne Diaz, Eyby Leon
American Journal of Medical Genetics. Part A
|
January 4, 2020
Evidence of GMPPA founder mutation in indigenous Guatemalan population associated with alacrima, achalasia, and mental retardation syndrome
Jullianne Diaz, Timothy D Kane, Eyby Leon
American Journal of Medical Genetics. Part A
|
November 26, 2010
Mosaic Down syndrome in a patient with low-level mosaicism detected by microarray
Eyby Leon, Ying S Zou, Jeff M Milunsky
American Journal of Medical Genetics. Part A
|
April 13, 2017
Biotin-thiamine responsive basal ganglia disease: Identification of a pyruvate peak on brain spectroscopy, novel mutation in SLC19A3, and calculation of prevalence based on allele frequencies from aggregated next-generation sequencing data
Carlos R Ferreira, Matthew T Whitehead, Eyby Leon
American Journal of Medical Genetics. Part A
|
July 19, 2019
MAP1B related syndrome: Case presentation and review of literature
Diana M Julca, Jullianne Diaz, Seth Berger, et al.
Translational Science of Rare Diseases
|
April 24, 2018
Extending the phenotypic spectrum of Sengers syndrome: Congenital lactic acidosis with synthetic liver dysfunction
David B Beck, Kristina Cusmano-Ozog, Nickie Andescavage, et al.
American Journal of Medical Genetics. Part A
|
June 15, 2011
Partial trisomy 8 mosaicism due to a pseudoisodicentric chromosome 8
Eyby Leon, Seema M Jamal, Ying S Zou, et al.
Journal of Pediatric Genetics
|
September 15, 2016
RASA1 analysis guides management in a family with capillary malformation-arteriovenous malformation
Leigh Anne Flore, Eyby Leon, Tom A Maher, et al.
American Journal of Medical Genetics. Part A
|
October 20, 2022
ALDH1A2-related disorder: A new genetic syndrome due to alteration of the retinoic acid pathway
Eyby Leon, Claris Nde, Randall S Ray, et al.
Page
of 3