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Variability of retinopathy consequent upon novel mutations in LAMA1.
Ophthalmic Genet. 2022 Oct;43(5):671-678. doi: 10.1080/13816810.2022.2076283. Epub 2022 May 26.
Ophthalmic Genet. 2022.
PMID: 35616092
Expanding the phenotypic spectrum consequent upon de novo WDR37 missense variants.
Hay E, Henderson RH, Mansour S, Deshpande C, Jones R, Nutan S, Mankad K, Young RM, Moosajee M, Research Consortium GE, Arno G.
Hay E, et al. Among authors: nutan s.
Clin Genet. 2020 Aug;98(2):191-197. doi: 10.1111/cge.13795.
Clin Genet. 2020.
PMID: 32530092
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A genetic and clinical study of individuals with nonsyndromic retinopathy consequent upon sequence variants in HGSNAT, the gene associated with Sanfilippo C mucopolysaccharidosis.
Schiff ER, Daich Varela M, Robson AG, Pierpoint K, Ba-Abbad R, Nutan S, Zein WM, Ullah E, Huryn LA, Tuupanen S, Mahroo OA, Michaelides M, Burke D, Harvey K, Arno G, Hufnagel RB, Webster AR.
Schiff ER, et al. Among authors: nutan s.
Am J Med Genet C Semin Med Genet. 2020 Sep;184(3):631-643. doi: 10.1002/ajmg.c.31822. Epub 2020 Aug 7.
Am J Med Genet C Semin Med Genet. 2020.
PMID: 32770643
Free PMC article.
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