Daniah Albokhari

Publication Activity (10 Years)

Years Active: 2022-2024
Publications (10 Years): 7

Top Topics

Intellectual Disability

Botulinum Toxin

Top Venues

Cold Spring Harbor molecular case studies

American journal of medical genetics. Part A

Clinical case reports

This page only lists publications with an associated author ORCID identifier.

Publications

Daniah Albokhari, Ohood Alharbi, Alyssa Blesson, Mahim Jain
The diagnostic odyssey of a patient with dihydropyrimidinase deficiency: a case report and review of the literature. Cold Spring Harbor molecular case studies 9 (4) (2024)
Daniah Albokhari, Ohood Alharbi, Alyssa Blesson, Mahim Jain
The diagnostic odyssey of a patient with dihydropyrimidinase deficiency: a case report and review of the literature. Cold Spring Harbor molecular case studies 9 (4) (2024)
Daniah Albokhari, Ohood Alharbi, Alyssa Blesson, Mahim Jain
The diagnostic odyssey of a patient with dihydropyrimidinase deficiency: a case report and review of the literature. Cold Spring Harbor molecular case studies 9 (4) (2024)
Daniah Albokhari, Ohood Alharbi, Alyssa Blesson, Mahim Jain
The diagnostic odyssey of a patient with dihydropyrimidinase deficiency: a case report and review of the literature. Cold Spring Harbor molecular case studies 9 (4) (2024)
Daniah Albokhari, Ohood Alharbi, Alyssa Blesson, Mahim Jain
The diagnostic odyssey of a patient with dihydropyrimidinase deficiency: a case report and review of the literature. Cold Spring Harbor molecular case studies 9 (4) (2024)
Daniah Albokhari, Amanda Barone Pritchard, Adelyn Beil, Candace Muss, Caleb P Bupp, Dorothy K Grange, Geoffroy Delplancq, Jennifer Heeley, Melissa Zuteck, Michelle M Morrow, Paul Kuentz, Timothy Blake Palculict, Julie Elizabeth Hoover-Fong
TELO2-related syndrome (You-Hoover-Fong syndrome): Description of 14 new affected individuals and review of the literature. American journal of medical genetics. Part A (2023)
Mohammed A Almuqbil, Ahlam AbuMelha, Daniah Albokhari
Milder presentation of autosomal dominant fatty acyl CoA reductase 1-related syndrome: Report of the first Middle Eastern patient and review of the literature. Clinical case reports 10 (10) (2022)