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Pediatric Neurology
|
March 26, 2024
Clinical Characteristics and Appropriateness of Investigations in Children With Headaches at the Emergency Department
Hanan Azouz, Wafaa Muhammed, Marwa Abd Elmaksoud
Journal of Human Genetics
|
July 31, 2024
A homozygous nonsense variant in the alternatively spliced VLDLR exon 4 causes a neurodevelopmental disorder without features of VLDLR cerebellar hypoplasia
Tess Holling, Ibrahim M Abdelrazek, Ghada M Elhady, et al.
Pediatric Neurology
|
June 5, 2024
Adapting Evidence-Based Practice Guidelines for Emergency Management of Seizures in Children Beyond the Neonatal Period
Ashraf Abdel Baky, Ashraf Al Refaei, Ebtesam El Melegy, et al.
Clinical Genetics
|
April 30, 2025
Analysis of Copy Number Variants Is an Important Consideration in Exome Sequencing
Asmaa K Amin, Sara H El-Dessouky, Marwa Abd Elmaksoud, et al.
Medrxiv : the Preprint Server for Health Sciences
|
July 10, 2023
Biallelic loss of function variants in <i>WBP4</i>, encoding a spliceosome protein, result in a variable neurodevelopmental delay syndrome
Eden Engal, Kaisa Teele Oja, Reza Maroofian, et al.
Arthritis & Rheumatology (Hoboken, N.J.)
|
July 16, 2026
A Multi-Center Integrative Cohort Characterizing the Genetic, Clinical, and Transcriptomic Features of ACP5 Deficiency
Shiling Zhong, Shuangyue Ma, Yasmine El Chazli, et al.
American Journal of Human Genetics
|
November 14, 2023
Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome
Eden Engal, Kaisa Teele Oja, Reza Maroofian, et al.
American Journal of Human Genetics
|
January 22, 2026
MDGA2 homozygous loss-of-function variants cause developmental and epileptic encephalopathy
Heba Morsy, Hyeonho Kim, Gyubin Jang, et al.
Journal of Clinical Immunology
|
July 9, 2020
Neuroinflammatory Disease as an Isolated Manifestation of Hemophagocytic Lymphohistiocytosis
Annaliesse Blincoe, Maximilian Heeg, Patrick K Campbell, et al.
Brain Communications
|
October 3, 2025
Clinical and molecular characterization of SLC31A1-related developmental and epileptic encephalopathy: insights from 13 new cases
Natalia Juliá-Palacios, Gerard Muñoz-Pujol, Reza Maroofian, et al.
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Search research articles
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Showing results (1-10 of 13) with videos related to
Sort By:
Page
of 2
Pediatric Neurology
|
March 26, 2024
Clinical Characteristics and Appropriateness of Investigations in Children With Headaches at the Emergency Department
Hanan Azouz, Wafaa Muhammed, Marwa Abd Elmaksoud
Journal of Human Genetics
|
July 31, 2024
A homozygous nonsense variant in the alternatively spliced VLDLR exon 4 causes a neurodevelopmental disorder without features of VLDLR cerebellar hypoplasia
Tess Holling, Ibrahim M Abdelrazek, Ghada M Elhady, et al.
Pediatric Neurology
|
June 5, 2024
Adapting Evidence-Based Practice Guidelines for Emergency Management of Seizures in Children Beyond the Neonatal Period
Ashraf Abdel Baky, Ashraf Al Refaei, Ebtesam El Melegy, et al.
Clinical Genetics
|
April 30, 2025
Analysis of Copy Number Variants Is an Important Consideration in Exome Sequencing
Asmaa K Amin, Sara H El-Dessouky, Marwa Abd Elmaksoud, et al.
Medrxiv : the Preprint Server for Health Sciences
|
July 10, 2023
Biallelic loss of function variants in <i>WBP4</i>, encoding a spliceosome protein, result in a variable neurodevelopmental delay syndrome
Eden Engal, Kaisa Teele Oja, Reza Maroofian, et al.
Arthritis & Rheumatology (Hoboken, N.J.)
|
July 16, 2026
A Multi-Center Integrative Cohort Characterizing the Genetic, Clinical, and Transcriptomic Features of ACP5 Deficiency
Shiling Zhong, Shuangyue Ma, Yasmine El Chazli, et al.
American Journal of Human Genetics
|
November 14, 2023
Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome
Eden Engal, Kaisa Teele Oja, Reza Maroofian, et al.
American Journal of Human Genetics
|
January 22, 2026
MDGA2 homozygous loss-of-function variants cause developmental and epileptic encephalopathy
Heba Morsy, Hyeonho Kim, Gyubin Jang, et al.
Journal of Clinical Immunology
|
July 9, 2020
Neuroinflammatory Disease as an Isolated Manifestation of Hemophagocytic Lymphohistiocytosis
Annaliesse Blincoe, Maximilian Heeg, Patrick K Campbell, et al.
Brain Communications
|
October 3, 2025
Clinical and molecular characterization of SLC31A1-related developmental and epileptic encephalopathy: insights from 13 new cases
Natalia Juliá-Palacios, Gerard Muñoz-Pujol, Reza Maroofian, et al.
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of 2