Search Results - "Rein-Rothschild A"

Clinical profiling and medical management of Israeli individuals with Phelan McDermid syndrome.

Authors: Chorin O Greenbaum L Lev-Hochberg S et al.

Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2025 Mar 18; Vol. 20 (1), pp. 132. Date of Electronic Publication: 2025 Mar 18.

Publication Type: Journal Article

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

Fetal Presentation of MYRF-Related Cardiac Urogenital Syndrome: An Emerging and Challenging Prenatal Diagnosis.

Authors: Favier M Brischoux-Boucher E Pyle LC et al.

Source: Prenatal diagnosis [Prenat Diagn] 2024 Dec; Vol. 44 (13), pp. 1647-1658. Date of Electronic Publication: 2024 Nov 14.

Publication Type: Journal Article; Research Support, N.I.H., Extramural

Journal Info: Publisher: Wiley Country of Publication: England NLM ID: 8106540 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-0223 (Electronic) Linking ISSN: 01973851 NLM ISO Abbreviation: Prenat Diagn Subsets: MEDLINE

Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function.

Authors: Asadollahi R Ahmad A Boonsawat P et al.

Source: Nature genetics [Nat Genet] 2025 Nov; Vol. 57 (11), pp. 2691-2704. Date of Electronic Publication: 2025 Oct 22.

Publication Type: Journal Article

Journal Info: Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE