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DYRK1A pathogenic variants in two patients with syndromic intellectual disability and a review of the literature.
Mol Genet Genomic Med. 2020 Dec;8(12):e1544. doi: 10.1002/mgg3.1544. Epub 2020 Nov 7.
Mol Genet Genomic Med. 2020.
PMID: 33159716
Free PMC article.
Review.
Clinical application of a scale to assess genomic healthcare empowerment (GEmS): Process and illustrative case examples.
McConkie-Rosell A, Schoch K, Sullivan J, Spillmann RC, Cope H, Tan QK, Palmer CGS; Undiagnosed Disease Network; Hooper SR, Shashi V.
McConkie-Rosell A, et al.
J Genet Couns. 2022 Feb;31(1):59-70. doi: 10.1002/jgc4.1451. Epub 2021 Jun 11.
J Genet Couns. 2022.
PMID: 34115423
Free PMC article.
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Characteristics of undiagnosed diseases network applicants: implications for referring providers.
Walley NM, Pena LDM, Hooper SR, Cope H, Jiang YH, McConkie-Rosell A, Sanders C, Schoch K, Spillmann RC, Strong K, McCray AT, Mazur P, Esteves C, LeBlanc K; Undiagnosed Diseases Network; Wise AL, Shashi V.
Walley NM, et al.
BMC Health Serv Res. 2018 Aug 22;18(1):652. doi: 10.1186/s12913-018-3458-2.
BMC Health Serv Res. 2018.
PMID: 30134969
Free PMC article.
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Genomics in medicine: a novel elective rotation for internal medicine residents.
Geng LN, Kohler JN, Levonian P; Members of the Undiagnosed Diseases Network; Bernstein JA, Ford JM, Ahuja N, Witteles R, Hom J, Wheeler M.
Geng LN, et al.
Postgrad Med J. 2019 Oct;95(1128):569-572. doi: 10.1136/postgradmedj-2018-136355. Epub 2019 Aug 22.
Postgrad Med J. 2019.
PMID: 31439813
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Further evidence for the involvement of EFL1 in a Shwachman-Diamond-like syndrome and expansion of the phenotypic features.
Tan QK, Cope H, Spillmann RC, Stong N, Jiang YH, McDonald MT, Rothman JA, Butler MW, Frush DP, Lachman RS, Lee B, Bacino CA, Bonner MJ, McCall CM, Pendse AA, Walley N; Undiagnosed Diseases Network; Shashi V, Pena LDM.
Tan QK, et al.
Cold Spring Harb Mol Case Stud. 2018 Oct 1;4(5):a003046. doi: 10.1101/mcs.a003046. Print 2018 Oct.
Cold Spring Harb Mol Case Stud. 2018.
PMID: 29970384
Free PMC article.
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IgG4-related disease: Association with a rare gene variant expressed in cytotoxic T cells.
Newman JH, Shaver A, Sheehan JH, Mallal S, Stone JH, Pillai S, Bastarache L, Riebau D, Allard-Chamard H, Stone WM, Perugino C, Pilkinton M, Smith SA, McDonnell WJ, Capra JA, Meiler J, Cogan J, Xing K, Mahajan VS, Mattoo H, Hamid R, Phillips JA 3rd; Undiagnosed Disease Network.
Newman JH, et al.
Mol Genet Genomic Med. 2019 Jun;7(6):e686. doi: 10.1002/mgg3.686. Epub 2019 Apr 16.
Mol Genet Genomic Med. 2019.
PMID: 30993913
Free PMC article.
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Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.
Schneeberger PE, Kortüm F, Korenke GC, Alawi M, Santer R, Woidy M, Buhas D, Fox S, Juusola J, Alfadhel M, Webb BD, Coci EG, Abou Jamra R, Siekmeyer M, Biskup S, Heller C, Maier EM, Javaher-Haghighi P, Bedeschi MF, Ajmone PF, Iascone M, Peeters H, Ballon K, Jaeken J, Rodríguez Alonso A, Palomares-Bralo M, Santos-Simarro F, Meuwissen MEC, Beysen D, Kooy RF, Houlden H, Murphy D, Doosti M, Karimiani EG, Mojarrad M, Maroofian R, Noskova L, Kmoch S, Honzik T, Cope H, Sanchez-Valle A; Undiagnosed Diseases Network; Gelb BD, Kurth I, Hempel M, Kutsche K.
Schneeberger PE, et al.
Brain. 2020 Aug 1;143(8):2437-2453. doi: 10.1093/brain/awaa204.
Brain. 2020.
PMID: 32761064
Free PMC article.
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