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Pediatric Transplantation
|
April 3, 2025
Acquired Genotype-Positive Long QT Syndrome After Pediatric Heart Transplantation
Nicholas V Barresi, Jessica Sebastian, Gaurav Arora, et al.
Journal of Neurodevelopmental Disorders
|
August 11, 2015
CNTN6 copy number variations in 14 patients: a possible candidate gene for neurodevelopmental and neuropsychiatric disorders
Jie Hu, Jun Liao, Malini Sathanoori, et al.
Ophthalmic Genetics
|
June 1, 2026
Gillespie syndrome caused by a novel <i>ITPR1</i> gene variant: a phenotype-genotype correlation
Meghal Gagrani, Kelly Schooping Tripi, Hannah L Scanga, et al.
Psychiatric Genetics
|
July 15, 2022
Chromosome 2q12.3-q13 copy number variants in patients with neurodevelopmental disorders: genotype-phenotype correlation and new hotspots
Mahmoud Aarabi, Jacqueline Baumann, Melanie Babcock, et al.
Ophthalmic Genetics
|
August 26, 2020
Ocular findings of albinism in <i>DYRK1A-</i>related intellectual disability syndrome
Julia Ernst, Michelle L Alabek, Amgad Eldib, et al.
American Journal of Medical Genetics. Part A
|
March 8, 2026
Unusual Recombinant Chromosome 6 Derived From a Parental Rearrangement With Complex Paracentric Inversions
Melanie Babcock, Marwa Daghsni, Jessica Sebastian, et al.
American Journal of Medical Genetics. Part A
|
January 9, 2020
Four children with postnatally diagnosed mosaic trisomy 12: Clinical features, literature review, and current diagnostic capabilities of genetic testing
Jie Hu, Zhishuo Ou, Urvashi Surti, et al.
American Journal of Medical Genetics. Part A
|
September 21, 2016
Familial deletion of the HOXA gene cluster associated with Hand-Foot-Genital syndrome and phenotypic variability
Emir Tas, Jessica Sebastian, Suneeta Madan-Khetarpal, et al.
American Journal of Medical Genetics. Part A
|
December 4, 2021
A homozygous CAP2 pathogenic variant in a neonate presenting with rapidly progressive cardiomyopathy and nemaline rods
Sharavana Gurunathan, Jessica Sebastian, Jennifer Baker, et al.
Scientific Reports
|
November 2, 2019
Reticular Dysgenesis and Mitochondriopathy Induced by Adenylate Kinase 2 Deficiency with Atypical Presentation
Lina Ghaloul-Gonzalez, Al-Walid Mohsen, Anuradha Karunanidhi, et al.
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Search research articles
Search
Showing results (1-10 of 24) with videos related to
Sort By:
Page
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Pediatric Transplantation
|
April 3, 2025
Acquired Genotype-Positive Long QT Syndrome After Pediatric Heart Transplantation
Nicholas V Barresi, Jessica Sebastian, Gaurav Arora, et al.
Journal of Neurodevelopmental Disorders
|
August 11, 2015
CNTN6 copy number variations in 14 patients: a possible candidate gene for neurodevelopmental and neuropsychiatric disorders
Jie Hu, Jun Liao, Malini Sathanoori, et al.
Ophthalmic Genetics
|
June 1, 2026
Gillespie syndrome caused by a novel <i>ITPR1</i> gene variant: a phenotype-genotype correlation
Meghal Gagrani, Kelly Schooping Tripi, Hannah L Scanga, et al.
Psychiatric Genetics
|
July 15, 2022
Chromosome 2q12.3-q13 copy number variants in patients with neurodevelopmental disorders: genotype-phenotype correlation and new hotspots
Mahmoud Aarabi, Jacqueline Baumann, Melanie Babcock, et al.
Ophthalmic Genetics
|
August 26, 2020
Ocular findings of albinism in <i>DYRK1A-</i>related intellectual disability syndrome
Julia Ernst, Michelle L Alabek, Amgad Eldib, et al.
American Journal of Medical Genetics. Part A
|
March 8, 2026
Unusual Recombinant Chromosome 6 Derived From a Parental Rearrangement With Complex Paracentric Inversions
Melanie Babcock, Marwa Daghsni, Jessica Sebastian, et al.
American Journal of Medical Genetics. Part A
|
January 9, 2020
Four children with postnatally diagnosed mosaic trisomy 12: Clinical features, literature review, and current diagnostic capabilities of genetic testing
Jie Hu, Zhishuo Ou, Urvashi Surti, et al.
American Journal of Medical Genetics. Part A
|
September 21, 2016
Familial deletion of the HOXA gene cluster associated with Hand-Foot-Genital syndrome and phenotypic variability
Emir Tas, Jessica Sebastian, Suneeta Madan-Khetarpal, et al.
American Journal of Medical Genetics. Part A
|
December 4, 2021
A homozygous CAP2 pathogenic variant in a neonate presenting with rapidly progressive cardiomyopathy and nemaline rods
Sharavana Gurunathan, Jessica Sebastian, Jennifer Baker, et al.
Scientific Reports
|
November 2, 2019
Reticular Dysgenesis and Mitochondriopathy Induced by Adenylate Kinase 2 Deficiency with Atypical Presentation
Lina Ghaloul-Gonzalez, Al-Walid Mohsen, Anuradha Karunanidhi, et al.
Page
of 3