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2022 | 2 |
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Page 1
Oral Phenotype of Singleton-Merten Syndrome: A Systematic Review Illustrated With a Case Report.
Front Genet. 2022 Jun 9;13:875490. doi: 10.3389/fgene.2022.875490. eCollection 2022.
Front Genet. 2022.
PMID: 35754802
Free PMC article.
Autosomal Recessive Cerebellar Atrophy and Spastic Ataxia in Patients With Pathogenic Biallelic Variants in GEMIN5.
Rajan DS, Kour S, Fortuna TR, Cousin MA, Barnett SS, Niu Z, Babovic-Vuksanovic D, Klee EW, Kirmse B, Innes M, Rydning SL, Selmer KK, Vigeland MD, Erichsen AK, Nemeth AH, Millan F, DeVile C, Fawcett K, Legendre A, Sims D, Schnekenberg RP, Burglen L, Mercier S, Bakhtiari S, Francisco-Velilla R, Embarc-Buh A, Martinez-Salas E, Wigby K, Lenberg J, Friedman JR, Kruer MC, Pandey UB.
Rajan DS, et al. Among authors: legendre a.
Front Cell Dev Biol. 2022 Feb 28;10:783762. doi: 10.3389/fcell.2022.783762. eCollection 2022.
Front Cell Dev Biol. 2022.
PMID: 35295849
Free PMC article.
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New description of an MRPS2 homozygous patient: Further features to help expend the phenotype.
Papadopoulos T, Gaignard P, Schiff M, Rio M, Karall D, Legendre A, Verloes A, Ruaud L.
Papadopoulos T, et al. Among authors: legendre a.
Eur J Med Genet. 2024 Feb;67:104889. doi: 10.1016/j.ejmg.2023.104889. Epub 2023 Nov 27.
Eur J Med Genet. 2024.
PMID: 38029925
Free article.
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