Search Results - "Signer RH"

Genome-wide association studies of binge eating behaviour and anorexia nervosa yield insights into the unique and shared biology of eating disorder phenotypes.

Authors: Termorshuizen JD Davies HL Lee SH et al.

Corporate Authors: Termorshuizen JD Davies HL Lee SH et al.

Source: MedRxiv : the preprint server for health sciences [medRxiv] 2025 May 08. Date of Electronic Publication: 2025 May 08.

Publication Type: Journal Article; Preprint

Journal Info: Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE

Expansion of NEUROD2 phenotypes to include developmental delay without seizures.

Authors: Mis EK Sega AG Signer RH et al.

Corporate Authors: Mis EK Sega AG Signer RH et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2021 Apr; Vol. 185 (4), pp. 1076-1080. Date of Electronic Publication: 2021 Jan 13.

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

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain.

Authors: Marbach F Stoyanov G Erger F et al.

Corporate Authors: Marbach F Stoyanov G Erger F et al.

Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Aug; Vol. 23 (8), pp. 1465-1473. Date of Electronic Publication: 2021 Apr 08.

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

Diagnostic utility of transcriptome sequencing for rare Mendelian diseases.

Authors: Lee H Huang AY Wang LK et al.

Corporate Authors: Lee H Huang AY Wang LK et al.

Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2020 Mar; Vol. 22 (3), pp. 490-499. Date of Electronic Publication: 2019 Oct 14.

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

Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

Mutations in STAG2 cause an X-linked cohesinopathy associated with undergrowth, developmental delay, and dysmorphia: Expanding the phenotype in males.

Authors: Mullegama SV Klein SD Signer RH et al.

Corporate Authors: Mullegama SV Klein SD Signer RH et al.

Source: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2019 Feb; Vol. 7 (2), pp. e00501. Date of Electronic Publication: 2018 Nov 16.

Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2324-9269 (Electronic) Linking ISSN: 23249269 NLM ISO Abbreviation: Mol Genet Genomic Med Subsets: MEDLINE