Galuh Dyah Nur Astuti, M.Si.Med
Biography
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A de novo paradigm for male infertility
Q1
NATURE COMMUNICATIONS , vol. 13
Creator: Oud M.S.
2022
1 cited
Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome
Q1
GENETICS IN MEDICINE (ISSN: 10983600) , vol. 24 , pp. 1283-1296
Creator: van der Spek J.
2022
0 cited
De novo mutations in children born after medical assisted reproduction
Q1
HUMAN REPRODUCTION (ISSN: 02681161) , vol. 37 , pp. 1360-1369
Creator: Smits R.M.
2022
1 cited
Scrutinizing pathogenicity of the USH2A c.2276 G > T; p.(Cys759Phe) variant
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NPJ GENOMIC MEDICINE , vol. 7
Creator: Reurink J.
2022
1 cited
Q1
HUMAN REPRODUCTION (ISSN: 02681161) , vol. 36 , pp. 2597-2611
Creator: Oud M.S.
2021
7 cited
Q1
NPJ GENOMIC MEDICINE , vol. 6
Creator: Fadaie Z.
2021
5 cited
Presence of Genetic Variants among Young Men with Severe COVID-19
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JAMA - JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (ISSN: 00987484) , vol. 324 , pp. 663-673
Creator: Van Der Made C.I.
2020
356 cited
Late-onset Stargardt disease due to mild, deep-intronic ABCA4 alleles
Q1
INVESTIGATIVE OPHTHALMOLOGY AND VISUAL SCIENCE (ISSN: 01460404) , vol. 60 , pp. 4249-4256
Creator: Runhart E.H.
2019
13 cited
Identification of inherited retinal disease-associated genetic variants in 11 candidate genes
Q3
GENES , vol. 9
Creator: Astuti G.D.N.
2018
13 cited
Author response: Penetrance of the ABCA4 p.Asn1868Ile allele in stargardt disease
Q1
INVESTIGATIVE OPHTHALMOLOGY AND VISUAL SCIENCE (ISSN: 01460404) , vol. 59 , pp. 5566-5568
Creator: Cremers F.P.M.
2018
15 cited