TECPR2‐related hereditary sensory and autonomic neuropathy in two siblings from Palestine
Khalaf‐Nazzal, Reham, Dweikat, Imad, Ubeyratna, Nishanka, Fasham, James, Alawneh, Maysa, Leslie, Joseph, Maree, Mosab, Gunning, Adam, Zayed, Deyala Z., Voutsina, Nikol, McGavin, Lucy, Sawafta, Reem, Owens, Martina, Baker, Wisam, Turnpenny, Peter, Al‐Hijawi, Fida’, Baple, Emma L., Crosby, Andrew H., Rawlins, Lettie E.
Published in American journal of medical genetics. Part A (01.07.2024)
Published in American journal of medical genetics. Part A (01.07.2024)
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Journal Article
Consolidating biallelic SDHD variants as a cause of mitochondrial complex II deficiency
Lin, Siying, Fasham, James, Al-Hijawi, Fida', Qutob, Nouar, Gunning, Adam, Leslie, Joseph S, McGavin, Lucy, Ubeyratna, Nishanka, Baker, Wisam, Zeid, Ramez, Turnpenny, Peter D, Crosby, Andrew H, Baple, Emma L, Khalaf-Nazzal, Reham
Published in European journal of human genetics : EJHG (01.10.2021)
Published in European journal of human genetics : EJHG (01.10.2021)
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Journal Article
Final Exon Frameshift Biallelic PTPN23 Variants Are Associated with Microcephalic Complex Hereditary Spastic Paraplegia
Khalaf-Nazzal, Reham, Fasham, James, Ubeyratna, Nishanka, Evans, David J, Leslie, Joseph S, Warner, Thomas T, Al-Hijawi, Fida', Alshaer, Shurouq, Baker, Wisam, Turnpenny, Peter D, Baple, Emma L, Crosby, Andrew H
Published in Brain sciences (11.05.2021)
Published in Brain sciences (11.05.2021)
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Journal Article
Exocrine Pancreatic Insufficiency, Dyserythropoeitic Anemia, and Calvarial Hyperostosis Are Caused by a Mutation in the COX4I2 Gene
Shteyer, Eyal, Saada, Ann, Shaag, Avraham, Al-Hijawi, Fida' Aziz, Kidess, Rojette, Revel-Vilk, Shoshanah, Elpeleg, Orly
Published in American journal of human genetics (13.03.2009)
Published in American journal of human genetics (13.03.2009)
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Journal Article
Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder
Khalaf-Nazzal, Reham, Fasham, James, Inskeep, Katherine A., Blizzard, Lauren E., Leslie, Joseph S., Wakeling, Matthew N., Ubeyratna, Nishanka, Mitani, Tadahiro, Griffith, Jennifer L., Baker, Wisam, Al-Hijawi, Fida’, Keough, Karen C., Gezdirici, Alper, Pena, Loren, Spaeth, Christine G., Turnpenny, Peter D., Walsh, Joseph R., Ray, Randall, Neilson, Amber, Kouranova, Evguenia, Cui, Xiaoxia, Curiel, David T., Pehlivan, Davut, Akdemir, Zeynep Coban, Posey, Jennifer E., Lupski, James R., Dobyns, William B., Stottmann, Rolf W., Crosby, Andrew H., Baple, Emma L.
Published in American journal of human genetics (03.11.2022)
Published in American journal of human genetics (03.11.2022)
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Journal Article
Exocrine Pancreatic Insufficiency, Dyserythropoeitic Anemia, and Calvarial Hyperostosis Are Caused by a Mutation in the COX412 Gene
SHTEYER, Eyal, SAADA, Ann, SHAAG, Avraham, AL-HIJAWI, Fida Aziz, KIDESS, Rojette, REVEL-VILK, Shoshanah, ELPELEG, Orly
Published in American journal of human genetics (13.03.2009)
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Published in American journal of human genetics (13.03.2009)
Journal Article