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Expanding the phenotype of PIGP deficiency to multiple congenital anomalies-hypotonia-seizures syndrome.
Clin Genet. 2023 Aug;104(2):245-250. doi: 10.1111/cge.14340. Epub 2023 May 1.
Clin Genet. 2023.
PMID: 37125481
Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay.
Machol K, Rousseau J, Ehresmann S, Garcia T, Nguyen TTM, Spillmann RC, Sullivan JA, Shashi V, Jiang YH, Stong N, Fiala E, Willing M, Pfundt R, Kleefstra T, Cho MT, McLaughlin H, Rosello Piera M, Orellana C, Martínez F, Caro-Llopis A, Monfort S, Roscioli T, Nixon CY, Buckley MF, Turner A, Jones WD, van Hasselt PM, Hofstede FC, van Gassen KLI, Brooks AS, van Slegtenhorst MA, Lachlan K, Sebastian J, Madan-Khetarpal S, Sonal D, Sakkubai N, Thevenon J, Faivre L, Maurel A, Petrovski S, Krantz ID, Tarpinian JM, Rosenfeld JA, Lee BH; Undiagnosed Diseases Network; Campeau PM.
Machol K, et al. Among authors: rosello piera m.
Am J Hum Genet. 2019 Jan 3;104(1):164-178. doi: 10.1016/j.ajhg.2018.11.007. Epub 2018 Dec 20.
Am J Hum Genet. 2019.
PMID: 30580808
Free PMC article.
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Prenatal Genome-Wide Cell-Free DNA Screening: Three Years of Clinical Experience in a Hospital Prenatal Diagnostic Unit in Spain.
Pedrola Vidal L, Roselló Piera M, Martín-Grau C, Rubio Moll JS, Gómez Portero R, Marcos Puig B, Cervera Zamora JV, Quiroga R, Orellana Alonso C.
Pedrola Vidal L, et al. Among authors: rosello piera m.
Genes (Basel). 2024 Apr 28;15(5):568. doi: 10.3390/genes15050568.
Genes (Basel). 2024.
PMID: 38790198
Free PMC article.
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