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1.
Bi-Allelic UQCRFS1 Variants Are Associated with Mitochondrial Complex III Deficiency, Cardiomyopathy, and Alopecia Totalis.
Am J Hum Genet;
106(1): 102-111, 2020 01 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-31883641
2.
The identification of pathogenic variants in BRCA1/2 negative, high risk, hereditary breast and/or ovarian cancer patients: High frequency of FANCM pathogenic variants.
Int J Cancer;
144(11): 2683-2694, 2019 06 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-30426508
3.
A tandem duplication of BRCA1 exons 1-19 through DHX8 exon 2 in four families with hereditary breast and ovarian cancer syndrome.
Breast Cancer Res Treat;
172(3): 561-569, 2018 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-30191368
4.
Prevalence of BRCA1/2 germline mutations in 21â 401 families with breast and ovarian cancer.
J Med Genet;
53(7): 465-71, 2016 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-26928436
5.
Variants in TSPYL1 are not associated with sudden infant death syndrome in a cohort of deceased infants from Switzerland.
Mol Cell Probes;
29(1): 31-4, 2015 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-25449952
6.
Dissecting the genotype in syndromic intellectual disability using whole exome sequencing in addition to genome-wide copy number analysis.
Hum Genet;
132(7): 825-41, 2013 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-23552953
7.
12q14 microdeletion syndrome: A family with short stature and Silver-Russell syndrome (SRS)-like phenotype and review of the literature.
Eur J Med Genet;
61(8): 421-427, 2018 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-29501611
8.
NCAM2 deletion in a boy with macrocephaly and autism: Cause, association or predisposition?
Eur J Med Genet;
59(10): 493-8, 2016 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-27596683
9.
Efeito anticárie do flúor associado ao trimetafosfato de sódio / Anticaries effect of fluoride associated with sodium trimetaphosphate
Rev. Assoc. Paul. Cir. Dent;
70(2): 147-150, abr.-jun. 2016.
Artículo
en Portugués
| LILACS, BBO | ID: lil-797065
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