Search Results - "Burkardt D"

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Evidence-based classification of genes implicated in skeletal disorders using the ClinGen curation framework.

Authors: Webb RF McCurry H Girod A et al.

Corporate Authors: Webb RF McCurry H Girod A et al.

Source: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research [J Bone Miner Res] 2026 Jul 01; Vol. 41 (7), pp. 717-728.

Publication Type: Journal Article

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 8610640 Publication Model: Print Cited Medium: Internet ISSN: 1523-4681 (Electronic) Linking ISSN: 08840431 NLM ISO Abbreviation: J Bone Miner Res Subsets: MEDLINE

Clinical and Biochemical Phenotype Across the Genotypic Spectrum of 21-hydroxylase Deficiency in 457 Individuals.

Authors: Lao Q Schulman A Kulkarni S et al.

Source: The Journal of clinical endocrinology and metabolism [J Clin Endocrinol Metab] 2026 Mar 17; Vol. 111 (4), pp. 1098-1113.

Publication Type: Journal Article

Journal Info: Publisher: Oxford University Press Country of Publication: United States NLM ID: 0375362 Publication Model: Print Cited Medium: Internet ISSN: 1945-7197 (Electronic) Linking ISSN: 0021972X NLM ISO Abbreviation: J Clin Endocrinol Metab Subsets: MEDLINE

Longitudinal Characterization and Sonographic Staging of Testicular Adrenal Rest Tumors.

Authors: Vaid S Kulkarni S Marko J et al.

Source: The Journal of clinical endocrinology and metabolism [J Clin Endocrinol Metab] 2026 Feb 20; Vol. 111 (3), pp. 698-706.

Publication Type: Journal Article

Journal Info: Publisher: Oxford University Press Country of Publication: United States NLM ID: 0375362 Publication Model: Print Cited Medium: Internet ISSN: 1945-7197 (Electronic) Linking ISSN: 0021972X NLM ISO Abbreviation: J Clin Endocrinol Metab Subsets: MEDLINE

Recruitment through empathy and education: The role of the clinical experience on workforce development.

Authors: Achanta R Cannon A Goldberg SR et al.

Source: Molecular genetics and metabolism [Mol Genet Metab] 2025 May; Vol. 145 (1), pp. 109101. Date of Electronic Publication: 2025 Mar 28.

Publication Type: Letter

Journal Info: Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE; In Process

Correspondence on "The Clinical Geneticist Workforce: Community Forums to Address Challenges and Opportunities" by Chung et al.

Authors: Micham J Summar M Regier D et al.

Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Dec; Vol. 26 (12), pp. 101247. Date of Electronic Publication: 2024 Sep 03.

Publication Type: Letter

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; In Process

Thinking outside "The Box": Case-based didactics for medical education and the instructional legacy of Dr John M. Graham, Jr.

Authors: Sanchez-Lara PA Grand K Haanpää MK et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2021 Sep; Vol. 185 (9), pp. 2636-2645. Date of Electronic Publication: 2021 Apr 29.

Publication Type: Journal Article; Review

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

A celebration in honor of John M. Graham, Jr, MD, ScD.

Authors: D'Cunha Burkardt D Sanchez-Lara PA Girisha KM et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2021 Sep; Vol. 185 (9), pp. 2617-2619. Date of Electronic Publication: 2021 Jul 10.

Publication Type: Editorial; Historical 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

PRC2-complex related dysfunction in overgrowth syndromes: A review of EZH2, EED, and SUZ12 and their syndromic phenotypes.

Authors: Cyrus S Burkardt D Weaver DD et al.

Source: American journal of medical genetics. Part C, Seminars in medical genetics [Am J Med Genet C Semin Med Genet] 2019 Dec; Vol. 181 (4), pp. 519-531. Date of Electronic Publication: 2019 Nov 14.

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

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235745 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4876 (Electronic) Linking ISSN: 15524868 NLM ISO Abbreviation: Am J Med Genet C Semin Med Genet Subsets: MEDLINE

PTPN4 germline variants result in aberrant neurodevelopment and growth.

Authors: Chmielewska JJ Burkardt D Granadillo JL et al.

Source: HGG advances [HGG Adv] 2021 Jul 08; Vol. 2 (3). Date of Electronic Publication: 2021 Apr 05.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101772885 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2666-2477 (Electronic) Linking ISSN: 26662477 NLM ISO Abbreviation: HGG Adv Subsets: PubMed not MEDLINE

HIST1H1E Syndrome

Authors: Burkardt D Tatton-Brown K Adam MP et al.

Source: 1993.

Source: In: GeneReviews^® Adam MP; Ardinger HH; Pagon RA; Wallace SE; Bean LJH; Gripp KW; Mirzaa GM; Amemiya A

Publication Type: Review

Journal Info: Publisher: University of Washington, Seattle Cited Medium: Internet