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Author/Creator Faqeih, Eissa A.

1. ADAT3‐related intellectual disability: Further delineation of the phenotype. Issue 5 (3rd February 2016)

Authors:
El‐Hattab, Ayman W.; Saleh, Mohammed A.; Hashem, Amal; Al‐Owain, Mohammed; Asmari, Ali Al; Rabei, Hala; Abdelraouf, Hanem; Hashem, Mais; Alazami, Anas M.; Patel, Nisha; Shaheen, Ranad; Faqeih, Eissa A.; Alkuraya, Fowzan S.
Journal:
American journal of medical genetics
Issue:
Volume 170:Issue 5(2016)
Page Start:
1142
Record Type:
Journal Article
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2. Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1‐associated neurodevelopmental disorder (DAND) phenotype. Issue 12 (23rd September 2017)

Authors:
Chen, Li; Jensik, Philip J.; Alaimo, Joseph T.; Walkiewicz, Magdalena; Berger, Seth; Roeder, Elizabeth; Faqeih, Eissa A.; Bernstein, Jonathan A.; Smith, Ann C. M.; Mullegama, Sureni V.; Saffen, David W.; Elsea, Sarah H.
Journal:
Human mutation
Issue:
Volume 38:Issue 12(2017)
Page Start:
1774
Record Type:
Journal Article
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3. Further delineation of GEMIN4 related neurodevelopmental disorder with microcephaly, cataract, and renal abnormalities syndrome. Issue 10 (21st July 2022)

Authors:
Altassan, Ruqaiah; Qudair, Ahmad; Alokaili, Riyadh; Alhasan, Khalid; Faqeih, Eissa A.; Alhashem, Amal; Alowain, Muhammed; Alsayed, Moeanaldeen; Rahbeeni, Zuhair; Albadi, Lama; Alkuraya, Fowzan S.; Anderson, Eric N.; Rajan, Deepa; Pandey, Udai Bhan
Journal:
American journal of medical genetics
Issue:
Volume 188:Issue 10(2022)
Page Start:
2932
Record Type:
Journal Article
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4. Molecular and clinical spectra of FBXL4 deficiency. Issue 12 (6th October 2017)

Authors:
El‐Hattab, Ayman W.; Dai, Hongzheng; Almannai, Mohammed; Wang, Julia; Faqeih, Eissa A.; Al Asmari, Ali; Saleh, Mohammed A. M.; Elamin, Mohammed A. O.; Alfadhel, Majid; Alkuraya, Fowzan S.; Hashem, Mais; Aldosary, Mazhor S.; Almass, Rawan; Almutairi, Faten B.; Alsagob, Maysoon; Al‐Owain, Mohammed;...
Journal:
Human mutation
Issue:
Volume 38:Issue 12(2017)
Page Start:
1649
Record Type:
Journal Article
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5. MPV17‐related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects. Issue 4 (13th January 2018)

Authors:
El‐Hattab, Ayman W.; Wang, Julia; Dai, Hongzheng; Almannai, Mohammed; Staufner, Christian; Alfadhel, Majid; Gambello, Michael J.; Prasun, Pankaj; Raza, Saleem; Lyons, Hernando J.; Afqi, Manal; Saleh, Mohammed A. M.; Faqeih, Eissa A.; Alzaidan, Hamad I.; Alshenqiti, Abduljabbar; Flore, Leigh Anne;...
Journal:
Human mutation
Issue:
Volume 39:Issue 4(2018)
Page Start:
461
Record Type:
Journal Article
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6. Novel homozygous DEAF1 variant suspected in causing white matter disease, intellectual disability, and microcephaly. Issue 6 (25th March 2014)

Authors:
Faqeih, Eissa A.; Al‐Owain, Mohammed; Colak, Dilek; Kenana, Rosan; Al‐Yafee, Yusra; Al‐Dosary, Mazhor; Al‐Saman, Abdulaziz; Albalawi, Fadwa; Al‐Sarar, Dalia; Domiaty, Dalia; Daghestani, Maha; Kaya, Namik
Journal:
American journal of medical genetics
Issue:
Volume 164:Issue 6(2014.)
Page Start:
1565
Record Type:
Journal Article
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