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sobreira n
(113 results)?
A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature.
Am J Med Genet A. 2023 May;191(5):1227-1239. doi: 10.1002/ajmg.a.63130. Epub 2023 Feb 7.
Am J Med Genet A. 2023.
PMID: 36751037
Free PMC article.
Familial Aggregation in Idiopathic Subglottic Stenosis.
Drake VE, Gelbard A, Sobriera N, Wohler E, Berry LL, Hussain LL, Hillel A.
Drake VE, et al. Among authors: sobriera n.
Otolaryngol Head Neck Surg. 2020 Nov;163(5):1011-1017. doi: 10.1177/0194599820935402. Epub 2020 Jun 30.
Otolaryngol Head Neck Surg. 2020.
PMID: 32600122
Free PMC article.
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ClinGen--the Clinical Genome Resource.
Rehm HL, Berg JS, Brooks LD, Bustamante CD, Evans JP, Landrum MJ, Ledbetter DH, Maglott DR, Martin CL, Nussbaum RL, Plon SE, Ramos EM, Sherry ST, Watson MS; ClinGen.
Rehm HL, et al.
N Engl J Med. 2015 Jun 4;372(23):2235-42. doi: 10.1056/NEJMsr1406261. Epub 2015 May 27.
N Engl J Med. 2015.
PMID: 26014595
Free PMC article.
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Ankyrin-B dysfunction predisposes to arrhythmogenic cardiomyopathy and is amenable to therapy.
Roberts JD, Murphy NP, Hamilton RM, Lubbers ER, James CA, Kline CF, Gollob MH, Krahn AD, Sturm AC, Musa H, El-Refaey M, Koenig S, Aneq MÅ, Hoorntje ET, Graw SL, Davies RW, Rafiq MA, Koopmann TT, Aafaqi S, Fatah M, Chiasson DA, Taylor MR, Simmons SL, Han M, van Opbergen CJ, Wold LE, Sinagra G, Mittal K, Tichnell C, Murray B, Codima A, Nazer B, Nguyen DT, Marcus FI, Sobriera N, Lodder EM, van den Berg MP, Spears DA, Robinson JF, Ursell PC, Green AK, Skanes AC, Tang AS, Gardner MJ, Hegele RA, van Veen TA, Wilde AA, Healey JS, Janssen PM, Mestroni L, van Tintelen JP, Calkins H, Judge DP, Hund TJ, Scheinman MM, Mohler PJ.
Roberts JD, et al. Among authors: sobriera n.
J Clin Invest. 2019 Jul 2;129(8):3171-3184. doi: 10.1172/JCI125538. eCollection 2019 Jul 2.
J Clin Invest. 2019.
PMID: 31264976
Free PMC article.
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A novel homozygous KY variant causing a complex neurological disorder.
Arif B, Rasheed A, Kumar KR, Fatima A, Abbas G, Wohler E, Sobriera N, Lohmann K, Naz S; Baylor-Hopkins Center for Mendelian Genomics.
Arif B, et al. Among authors: sobriera n.
Eur J Med Genet. 2020 Nov;63(11):104031. doi: 10.1016/j.ejmg.2020.104031. Epub 2020 Aug 18.
Eur J Med Genet. 2020.
PMID: 32818658
Free PMC article.
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Evidence-based assessments of clinical actionability in the context of secondary findings: Updates from ClinGen's Actionability Working Group.
Webber EM, Hunter JE, Biesecker LG, Buchanan AH, Clarke EV, Currey E, Dagan-Rosenfeld O, Lee K, Lindor NM, Martin CL, Milosavljevic A, Mittendorf KF, Muessig KR, O'Daniel JM, Patel RY, Ramos EM, Rego S, Slavotinek AM, Sobriera NLM, Weaver MA, Williams MS, Evans JP, Goddard KAB; ClinGen Resource.
Webber EM, et al. Among authors: sobriera nlm.
Hum Mutat. 2018 Nov;39(11):1677-1685. doi: 10.1002/humu.23631.
Hum Mutat. 2018.
PMID: 30311382
Free PMC article.
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