Search Results - "Spillmann R"

35 Individuals With HUWE1-Related Neurodevelopmental Disorder and Suggested Clinical Evaluations.

Authors: Li MH Coleman DL Hogan K et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2026 Apr 13. Date of Electronic Publication: 2026 Apr 13.

Publication Type: Journal Article

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 LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors.

Authors: Willim J Woike D Greene D et al.

Corporate Authors: Willim J Woike D Greene D et al.

Source: Nature communications [Nat Commun] 2024 Sep 10; Vol. 15 (1), pp. 7909. Date of Electronic Publication: 2024 Sep 10.

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

Journal Info: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

Congenital heart disease in school-aged children: Cognition, education, and participation in leisure activities.

Authors: Spillmann R Polentarutti S Ehrler M et al.

Source: Pediatric research [Pediatr Res] 2023 Oct; Vol. 94 (4), pp. 1523-1529. Date of Electronic Publication: 2021 Dec 01.

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

Journal Info: Publisher: Nature Publishing Group Country of Publication: United States NLM ID: 0100714 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0447 (Electronic) Linking ISSN: 00313998 NLM ISO Abbreviation: Pediatr Res Subsets: MEDLINE

The genome empowerment scale: An assessment of parental empowerment in families with undiagnosed disease.

Authors: McConkie-Rosell A Schoch K Sullivan J et al.

Corporate Authors: McConkie-Rosell A Schoch K Sullivan J et al.

Source: Clinical genetics [Clin Genet] 2019 Dec; Vol. 96 (6), pp. 521-531. Date of Electronic Publication: 2019 Oct 08.

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

Journal Info: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

Quinidine in the treatment of KCNT1-positive epilepsies.

Authors: Mikati MA Jiang YH Carboni M et al.

Source: Annals of neurology [Ann Neurol] 2015 Dec; Vol. 78 (6), pp. 995-9. Date of Electronic Publication: 2015 Nov 18.

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

Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 7707449 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8249 (Electronic) Linking ISSN: 03645134 NLM ISO Abbreviation: Ann Neurol Subsets: MEDLINE

Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science.

Authors: Schoch K Esteves C Bican A et al.

Corporate Authors: Schoch K Esteves C Bican A et al.

Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Feb; Vol. 23 (2), pp. 259-271. Date of Electronic Publication: 2020 Oct 23.

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

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

Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network.

Authors: Cope H Spillmann R Rosenfeld JA et al.

Corporate Authors: Cope H Spillmann R Rosenfeld JA et al.

Source: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2020 Oct; Vol. 8 (10), pp. e1397. Date of Electronic Publication: 2020 Jul 30.

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

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

GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder.

Authors: Shieh C Jones N Vanle B et al.

Corporate Authors: Shieh C Jones N Vanle B et al.

Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2020 May; Vol. 22 (5), pp. 878-888. Date of Electronic Publication: 2020 Jan 17.

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

Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder.

Authors: Shieh C Jones N Vanle B et al.

Corporate Authors: Shieh C Jones N Vanle B et al.

Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2020 Apr; Vol. 22 (4), pp. 822.

Publication Type: Published Erratum

Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE; PubMed not MEDLINE

Yield of whole exome sequencing in undiagnosed patients facing insurance coverage barriers to genetic testing.

Authors: Reuter CM Kohler JN Bonner D et al.

Corporate Authors: Reuter CM Kohler JN Bonner D et al.

Source: Journal of genetic counseling [J Genet Couns] 2019 Dec; Vol. 28 (6), pp. 1107-1118. Date of Electronic Publication: 2019 Sep 03.

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

Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 9206865 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-3599 (Electronic) Linking ISSN: 10597700 NLM ISO Abbreviation: J Genet Couns Subsets: MEDLINE

A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative.

Authors: Shashi V Schoch K Spillmann R et al.

Corporate Authors: Shashi V Schoch K Spillmann R et al.

Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2019 Jan; Vol. 21 (1), pp. 161-172. Date of Electronic Publication: 2018 Jun 15.

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

Not the End of the Odyssey: Parental Perceptions of Whole Exome Sequencing (WES) in Pediatric Undiagnosed Disorders.

Authors: Rosell AM Pena LD Schoch K et al.

Source: Journal of genetic counseling [J Genet Couns] 2016 Oct; Vol. 25 (5), pp. 1019-31. Date of Electronic Publication: 2016 Feb 12.

Publication Type: Journal Article

Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 9206865 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-3599 (Electronic) Linking ISSN: 10597700 NLM ISO Abbreviation: J Genet Couns Subsets: MEDLINE

Development aid through information. Trying a new concept in Columbia.

Authors: Spillmann RK

Source: Acta tropica [Acta Trop] 1977 Sep; Vol. 34 (3), pp. 215-27.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 0370374 Publication Model: Print Cited Medium: Print ISSN: 0001-706X (Print) Linking ISSN: 0001706X NLM ISO Abbreviation: Acta Trop Subsets: MEDLINE

Double-blind test of metronidazole and tinidazole in the treatment of asymptomatic Entamoeba histolytica and Entamoeba hartmanni carriers.

Authors: Spillmann R Ayala SC Sanchez CE

Source: The American journal of tropical medicine and hygiene [Am J Trop Med Hyg] 1976 Jul; Vol. 25 (4), pp. 549-51.

Publication Type: Clinical Trial; Controlled Clinical Trial; Journal Article; Research Support, U.S. Gov't, P.H.S.

Journal Info: Publisher: American Society of Tropical Medicine and Hygiene Country of Publication: United States NLM ID: 0370507 Publication Model: Print Cited Medium: Print ISSN: 0002-9637 (Print) Linking ISSN: 00029637 NLM ISO Abbreviation: Am J Trop Med Hyg Subsets: MEDLINE

Pulmonary ascariasis in tropical communities.

Authors: Spillmann RK

Source: The American journal of tropical medicine and hygiene [Am J Trop Med Hyg] 1975 Sep; Vol. 24 (5), pp. 791-800.

Publication Type: Journal Article; Research Support, U.S. Gov't, P.H.S.

Journal Info: Publisher: American Society of Tropical Medicine and Hygiene Country of Publication: United States NLM ID: 0370507 Publication Model: Print Cited Medium: Print ISSN: 0002-9637 (Print) Linking ISSN: 00029637 NLM ISO Abbreviation: Am J Trop Med Hyg Subsets: MEDLINE