نتائج البحث

Universal Haplotype-Based Noninvasive Prenatal Testing for Single Gene Diseases

• Authors : Hui, WWI; Jiang, P; Tong, YK

• Source: Clinical Chemistry , 63 (2) pp. 513-524. (2017)

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c.207C>G mutation in sepiapterin reductase causes autosomal dominant dopa-responsive dystonia

• Authors : Shalash, AS; Rösler, TW; Müller, SH

• Source: Neurology Genetics , 3 (6) , Article e197. (2017)

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Rare Genetic Variant in SORL1 May Increase Penetrance of Alzheimer's Disease in a Family with Several Generations of APOE-ɛ4 Homozygosity

• Authors : Louwersheimer, E; Cohn-Hokke, PE; Pijnenburg, YA

Subjects: APOE; Alzheimer’s disease; SORL1

• Source: Journal of Alzheimer's Disease , 56 (1) pp. 63-74. (2017)

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Contribution of NOTCH1 genetic variants to bicuspid aortic valve and other congenital lesions

• Authors : Debiec, Radoslaw Marek; Hamby, Stephen E; Jones, Peter D

• Source: Heart , 108 (14) pp. 1114-1120. (2022)

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Dominant Cone Rod Dystrophy, Previously Assigned to a Missense Variant in RIMS1, Is Fully Explained by Co-Inheritance of a Dominant Allele of PROM1

• Authors : Martin-Gutierrez, Maria Pilar; Schiff, Elena R; Wright, Genevieve

Subjects: AC133 Antigen; Alleles; Cone-Rod Dystrophies

• Source: Investigative Ophthalmology & Visual Science , 63 (9) , Article 14. (2022)

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Digenic Alport Syndrome

• Authors : Savige, Judy; Renieri, Alessandra; Ars, Elisabet

Subjects: Alport syndrome; COL4A3; COL4A4

• Source: Clinical Journal of the American Society of Nephrology , 17 (6) , Article CJN.03120322. (2022)

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Atypical development of Broca's area in a large family with inherited stuttering

• Authors : Thompson-Lake, DGY; Scerri, TS; Block, S

Subjects: Cortical thickness; inherited stuttering; Freesurfer

• Source: Brain , 145 (3) pp. 1177-1188. (2022)

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Identification of a Locus on the X Chromosome Linked to Familial Membranous Nephropathy

• Authors : Downie, ML; Gupta, S; Tekman, MC

Subjects: Genetic risk score; glomerulonephritis; linkage analysis

• Source: Kidney International Reports (2021) (In press).

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A microRNA Expression Profile as Non-Invasive Biomarker in a Large Arrhythmogenic Cardiomyopathy Cohort

• Authors : Bueno Marinas, M; Celeghin, R; Cason, M

Subjects: Arrhythmogenic Cardiomyopathy 2; biomarker 3; microRNA 1

• Source: International Journal of Molecular Sciences , 21 (4) , Article 1536. (2020)

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Copy number variation of LINGO1 in familial dystonic tremor

• Authors : Warner, TT; Alakbarzade, V; Iype, T

• Source: Neurology Genetics , 5 (1) , Article e307. (2019)

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