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Expanding the phenotypic spectrum of NAA10-related neurodevelopmental syndrome and NAA15-related neurodevelopmental syndrome.
Eur J Hum Genet. 2023 Jul;31(7):824-833. doi: 10.1038/s41431-023-01368-y. Epub 2023 May 2.
Eur J Hum Genet. 2023.
PMID: 37130971
Free PMC article.
Autosomal recessive SLC30A9 variants in a proband with a cerebrorenal syndrome and no parental consanguinity.
Kleyner R, Arif M, Marchi E, Horowitz N, Haworth A, King B, Gavin M, Amble K, Velinov M, Lyon GJ.
Kleyner R, et al. Among authors: amble k.
Cold Spring Harb Mol Case Stud. 2022 Mar 24;8(2):a006137. doi: 10.1101/mcs.a006137. Print 2022 Feb.
Cold Spring Harb Mol Case Stud. 2022.
PMID: 34716203
Free PMC article.
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Phenotypic variability and gastrointestinal manifestations/interventions for growth in NAA10-related neurodevelopmental syndrome.
Sandomirsky K, Marchi E, Gavin M, Amble K, Lyon GJ.
Sandomirsky K, et al. Among authors: amble k.
Am J Med Genet A. 2023 May;191(5):1293-1300. doi: 10.1002/ajmg.a.63152. Epub 2023 Feb 21.
Am J Med Genet A. 2023.
PMID: 36810866
Free PMC article.
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ITPR1-associated spinocerebellar ataxia with craniofacial features-additional evidence for germline mosaicism.
Kleyner R, Ung N, Arif M, Marchi E, Amble K, Gavin M, Madrid R, Lyon G.
Kleyner R, et al. Among authors: amble k.
Cold Spring Harb Mol Case Stud. 2024 Jan 10;9(4):a006303. doi: 10.1101/mcs.a006303. Print 2023 Dec.
Cold Spring Harb Mol Case Stud. 2024.
PMID: 37821226
Free PMC article.
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Placement, relocation and end of life issues in aging adults with and without Down's syndrome: a retrospective study.
Patti P, Amble K, Flory M.
Patti P, et al. Among authors: amble k.
J Intellect Disabil Res. 2010 Jun;54(6):538-46. doi: 10.1111/j.1365-2788.2010.01279.x.
J Intellect Disabil Res. 2010.
PMID: 20576062
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[Day hospitalization in psychiatric service. A follow-up study after 1-2 years of treatment].
Amble KE, Ogar B.
Amble KE, et al.
Tidsskr Nor Laegeforen. 1981 Oct 20;101(29):1632-7.
Tidsskr Nor Laegeforen. 1981.
PMID: 7339942
Norwegian.
No abstract available.
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[Psychiatric nursing in a hospital department].
Bergersen KH, Amble KE.
Bergersen KH, et al. Among authors: amble ke.
Sykepleien. 1978 Oct 20;65(17):1057-60.
Sykepleien. 1978.
PMID: 252220
Norwegian.
No abstract available.
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