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Apparent Mineralocorticoid Excess in the Pediatric Population: Report of a Novel Pathogenic Variant of the 11β-HSD2 Gene and Systematic Review of the Literature

Adamidis, Adam et al.

Pediatric endocrinology reviews: diabetes, nutrition, metabolism. Volume 16:Number 3 (2019, March); pp 335-358 -- YS Medical Media

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Sequence variants and genotypes among 898 patients with Pompe disease: data from the Pompe Registry

Kishnani, Priya S. et al.

Molecular genetics and metabolism. Volume 120:Issue 1/2 (2017); pp S75-

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GAA variants and phenotypes among 1, 079 patients with Pompe disease: Data from the Pompe Registry

Reuser, Arnold J. J.

Human mutation. Volume 40:Number 11 (2019, November); pp 2146-2164 -- Wiley Blackwell

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Front Cover, Volume 40, Issue 11

Reuser, Arnold J. J.

Human mutation. Volume 40:Number 11 (2019, November); pp i-i -- Wiley Blackwell

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Cover Image, Volume 176A, Number 4, April 2018

Zarate, Yuri A. et al.

American journal of medical genetics. Part A. Volume 176:Issue 4 (2018); pp n/a-n/a -- Wiley-Liss

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Natural history and genotype‐phenotype correlations in 72 individuals with SATB2‐associated syndrome

Zarate, Yuri A. et al.

American journal of medical genetics. Part A. Volume 176:Issue 4 (2018); pp 925-935 -- Wiley-Liss

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High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correlation

Rojnueangnit, Kitiwan et al.

Human mutation. Volume 36:Issue 11 (2015); pp 1052-1063 -- Wiley Blackwell

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