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Year Number of Results
1985 4
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1989 1
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2010 3
2011 1
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2015 2
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49 results

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Page 1
The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants.
Tatton-Brown K, Zachariou A, Loveday C, Renwick A, Mahamdallie S, Aksglaede L, Baralle D, Barge-Schaapveld D, Blyth M, Bouma M, Breckpot J, Crabb B, Dabir T, Cormier-Daire V, Fauth C, Fisher R, Gener B, Goudie D, Homfray T, Hunter M, Jorgensen A, Kant SG, Kirally-Borri C, Koolen D, Kumar A, Labilloy A, Lees M, Marcelis C, Mercer C, Mignot C, Miller K, Neas K, Newbury-Ecob R, Pilz DT, Posmyk R, Prada C, Ramsey K, Randolph LM, Selicorni A, Shears D, Suri M, Temple IK, Turnpenny P, Val Maldergem L, Varghese V, Veenstra-Knol HE, Yachelevich N, Yates L; Clinical Assessment of the Utility of Sequencing and Evaluation as a Service (CAUSES) Research Study; Deciphering Developmental Disorders (DDD) Study; Rahman N. Tatton-Brown K, et al. Among authors: randolph lm. Wellcome Open Res. 2018 Apr 23;3:46. doi: 10.12688/wellcomeopenres.14430.1. eCollection 2018. Wellcome Open Res. 2018. PMID: 29900417 Free PMC article.
The childless man.
Scheuerle AE, Picconi JL, Neidich J, Panny S, Plecher BA, Randolph LM, Trapane P, Trotter TL. Scheuerle AE, et al. Among authors: randolph lm. Am J Med Genet A. 2014 Feb;164A(2):561. doi: 10.1002/ajmg.a.36290. Epub 2013 Dec 5. Am J Med Genet A. 2014. PMID: 24311465 No abstract available.
Infant with Asymmetric Crying Facies.
Eskandar-Afshari F, Liu J, Randolph LM, Nair S. Eskandar-Afshari F, et al. Among authors: randolph lm. Neoreviews. 2023 Jan 1;24(1):47-50. doi: 10.1542/neo.24-1-e47. Neoreviews. 2023. PMID: 36587007 No abstract available.
Noninvasive Antemortem Detection of Retinal Prions by a Fluorescent Tracer.
Aguilar-Calvo P, Sevillano AM, Rasool S, Cao KJ, Randolph LM, Rissman RA, Sarraf ST, Yang J, Sigurdson CJ. Aguilar-Calvo P, et al. Among authors: randolph lm. J Alzheimers Dis. 2022;88(3):1137-1145. doi: 10.3233/JAD-220314. J Alzheimers Dis. 2022. PMID: 35754278 Free PMC article.
When moments matter: Finding answers with rapid exome sequencing.
Powis Z, Farwell Hagman KD, Blanco K, Au M, Graham JM, Singh K, Gallant N, Randolph LM, Towne M, Hunter J, Shinde DN, Palmaer E, Schoenfeld B, Tang S. Powis Z, et al. Among authors: randolph lm. Mol Genet Genomic Med. 2020 Feb;8(2):e1027. doi: 10.1002/mgg3.1027. Epub 2019 Dec 24. Mol Genet Genomic Med. 2020. PMID: 31872981 Free PMC article.
Phenotypic spectrum of autosomal recessive congenital ichthyosis due to PNPLA1 mutation.
Boyden LM, Craiglow BG, Hu RH, Zhou J, Browning J, Eichenfield L, Lim YL, Luu M, Randolph LM, Ginarte M, Fachal L, Rodriguez-Pazos L, Vega A, Kramer D, Yosipovitch G, Vahidnezhad H, Youssefian L, Uitto J, Lifton RP, Paller AS, Milstone LM, Choate KA. Boyden LM, et al. Among authors: randolph lm. Br J Dermatol. 2017 Jul;177(1):319-322. doi: 10.1111/bjd.15570. Epub 2017 Jun 7. Br J Dermatol. 2017. PMID: 28403545 Free PMC article. No abstract available.
Androgenetic chimerism as an etiology for Beckwith-Wiedemann syndrome: diagnosis and management.
Sheppard SE, Lalonde E, Adzick NS, Beck AE, Bhatti T, De Leon DD, Duffy KA, Ganguly A, Hathaway E, Ji J, Linn R, Lord K, Randolph LM, Sajorda B, States L, Conlin LK, Kalish JM. Sheppard SE, et al. Among authors: randolph lm. Genet Med. 2019 Nov;21(11):2644-2649. doi: 10.1038/s41436-019-0551-9. Epub 2019 May 31. Genet Med. 2019. PMID: 31147633 Free PMC article.
49 results