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Molecular Cytogenetics
|
September 6, 2018
Stable transmission of an unbalanced chromosome 21 derived from chromoanasynthesis in a patient with a <i>SYNGAP1</i> likely pathogenic variant
Peter J B Sabatini, Resham Ejaz, Dimitri J Stavropoulos, et al.
American Journal of Medical Genetics. Part A
|
January 13, 2016
Lateral meningocele (Lehman) syndrome: A child with a novel NOTCH3 mutation
Resham Ejaz, Wen Qin, Lijia Huang, et al.
Journal of Thrombosis and Haemostasis : JTH
|
March 29, 2020
Management of major bleeds in patients with immune thrombocytopenia
Siraj Mithoowani, Andrea Cervi, Nishwa Shah, et al.
American Journal of Medical Genetics. Part A
|
September 26, 2024
Diagnosis of TET3-Related Beck-Fahrner Syndrome in an Individual With Chorioretinal and Iris Colobomata Using a DNA Methylation Signature
Alice Man, Matteo Di Scipio, Haley McConkey, et al.
Pediatric Neurology
|
October 9, 2024
Severe Epilepsy in an Individual With a TSC2 R905Q Variant Prompting Late Diagnosis in Affected Family Members
Alice Man, Matteo Di Scipio, Breanne Dale, et al.
American Journal of Medical Genetics. Part A
|
August 26, 2017
De novo pathogenic variant in TUBB2A presenting with arthrogryposis multiplex congenita, brain abnormalities, and severe developmental delay
Resham Ejaz, Anath C Lionel, Susan Blaser, et al.
Seminars in Nephrology
|
July 16, 2025
Educating the Next-Generation Expert in Nephrology Genetics
Matthew B Lanktree, Shaymaa Shurrab, Resham Ejaz, et al.
Journal of Child Neurology
|
April 3, 2018
Impact of Mobility Device Use on Quality of Life in Children With Friedreich Ataxia
Resham Ejaz, Shiyi Chen, Charles J Isaacs, et al.
BMC Medical Genomics
|
July 11, 2019
New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome
Eric Chater-Diehl, Resham Ejaz, Cheryl Cytrynbaum, et al.
American Journal of Human Genetics
|
July 14, 2023
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling
Manuela Morleo, Rossella Venditti, Evangelos Theodorou, et al.
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of 3
Search research articles
Search
Showing results (11-20 of 21) with videos related to
Sort By:
Page
of 3
Molecular Cytogenetics
|
September 6, 2018
Stable transmission of an unbalanced chromosome 21 derived from chromoanasynthesis in a patient with a <i>SYNGAP1</i> likely pathogenic variant
Peter J B Sabatini, Resham Ejaz, Dimitri J Stavropoulos, et al.
American Journal of Medical Genetics. Part A
|
January 13, 2016
Lateral meningocele (Lehman) syndrome: A child with a novel NOTCH3 mutation
Resham Ejaz, Wen Qin, Lijia Huang, et al.
Journal of Thrombosis and Haemostasis : JTH
|
March 29, 2020
Management of major bleeds in patients with immune thrombocytopenia
Siraj Mithoowani, Andrea Cervi, Nishwa Shah, et al.
American Journal of Medical Genetics. Part A
|
September 26, 2024
Diagnosis of TET3-Related Beck-Fahrner Syndrome in an Individual With Chorioretinal and Iris Colobomata Using a DNA Methylation Signature
Alice Man, Matteo Di Scipio, Haley McConkey, et al.
Pediatric Neurology
|
October 9, 2024
Severe Epilepsy in an Individual With a TSC2 R905Q Variant Prompting Late Diagnosis in Affected Family Members
Alice Man, Matteo Di Scipio, Breanne Dale, et al.
American Journal of Medical Genetics. Part A
|
August 26, 2017
De novo pathogenic variant in TUBB2A presenting with arthrogryposis multiplex congenita, brain abnormalities, and severe developmental delay
Resham Ejaz, Anath C Lionel, Susan Blaser, et al.
Seminars in Nephrology
|
July 16, 2025
Educating the Next-Generation Expert in Nephrology Genetics
Matthew B Lanktree, Shaymaa Shurrab, Resham Ejaz, et al.
Journal of Child Neurology
|
April 3, 2018
Impact of Mobility Device Use on Quality of Life in Children With Friedreich Ataxia
Resham Ejaz, Shiyi Chen, Charles J Isaacs, et al.
BMC Medical Genomics
|
July 11, 2019
New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome
Eric Chater-Diehl, Resham Ejaz, Cheryl Cytrynbaum, et al.
American Journal of Human Genetics
|
July 14, 2023
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling
Manuela Morleo, Rossella Venditti, Evangelos Theodorou, et al.
Page
of 3