Publications:

The diagnostic yield, candidate genes, and pitfalls for a genetic study of intellectual disability in 118 middle eastern families.

Scientific Reports

Al-Kasbi, Ghalia G; Al-Murshedi, Fathiya F; Al-Kindi, Adila A; Al-Hashimi, Nadia N; Al-Thihli, Khalid K; Al-Saegh, Abeer A; Al-Futaisi, Amna A; Al-Mamari, Watfa W; Al-Asmi, Abdullah A; Bruwer, Zandre Z; Al-Kharusi, Khalsa K; Al-Rashdi, Samiya S; Zadjali, Fahad F; Al-Yahyaee, Said S; Al-Maawali, Almundher A

Publication Date: 2022-11-07

Variant appearance in text: LRP4: 3698A>C; Glu1233Ala

PubMed Link: 36344539

Variant Present in the following documents:

• 41598_2022_22036_MOESM2_ESM.xlsx, sheet 1

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Secreted Signaling Molecules at the Neuromuscular Junction in Physiology and Pathology.

International Journal Of Molecular Sciences

Ohkawara, Bisei B; Ito, Mikako M; Ohno, Kinji K

Publication Date: 2021-02-28

Variant appearance in text: SOST2: E1233A

PubMed Link: 33671084

Variant Present in the following documents:

• Main text
• ijms-22-02455.pdf

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Dissecting the Extracellular Complexity of Neuromuscular Junction Organizers.

Frontiers In Molecular Biosciences

Guarino, Salvatore R SR; Canciani, Anselmo A; Forneris, Federico F

Publication Date: 2019

Variant appearance in text: LRP4: Glu1233Ala

PubMed Link: 31998752

Variant Present in the following documents:

• Main text
• fmolb-06-00156.pdf

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The unfolding landscape of the congenital myasthenic syndromes.

Annals Of The New York Academy Of Sciences

Engel, Andrew G AG; Shen, Xin-Ming XM; Selcen, Duygu D

Publication Date: 2018-02

Variant appearance in text: LRP4: 3698A>C

PubMed Link: 29355968

Variant Present in the following documents:

• Main text

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