Zarate YA - Search Results

1

Bi-allelic variants in NAE1 cause intellectual disability, ischiopubic hypoplasia, stress-mediated lymphopenia and neurodegeneration.

Muffels IJJ, Schene IF, Rehmann H, Massink MPG, van der Wal MM, Bauder C, Labeur M, Armando NG, Lequin MH, Houben ML, Giltay JC, Haitjema S, Huisman A, Vansenne F, Bluvstein J, Pappas J, Shailee LV, Zarate YA, Mokry M, van Haaften GW, Nieuwenhuis EES, Refojo D, van Wijk F, Fuchs SA, van Hasselt PM. Muffels IJJ, et al. Among authors: zarate ya. Am J Hum Genet. 2023 Jan 5;110(1):146-160. doi: 10.1016/j.ajhg.2022.12.003. Am J Hum Genet. 2023. PMID: 36608681 Free PMC article.

2

Persistent congenital hyperinsulinism in two patients with Beckwith-Wiedemann syndrome due to mosaic uniparental disomy 11p.

Zarate YA, Shur N, Robin A, Garnica AD, Quintos JB, Schaefer GB. Zarate YA, et al. J Pediatr Endocrinol Metab. 2014 Sep;27(9-10):951-5. doi: 10.1515/jpem-2013-0484. J Pediatr Endocrinol Metab. 2014. PMID: 24756053

3

Intestinal malrotation in a patient with Pfeiffer syndrome type 2.

Zarate YA, Putnam PE, Saal HM. Zarate YA, et al. Cleft Palate Craniofac J. 2010 Nov;47(6):638-41. doi: 10.1597/09-115. Epub 2010 Feb 28. Cleft Palate Craniofac J. 2010. PMID: 20509766

4

Evaluation of growth in patients with isolated cleft lip and/or cleft palate.

Zarate YA, Martin LJ, Hopkin RJ, Bender PL, Zhang X, Saal HM. Zarate YA, et al. Pediatrics. 2010 Mar;125(3):e543-9. doi: 10.1542/peds.2009-1656. Epub 2010 Feb 8. Pediatrics. 2010. PMID: 20142284

5

Lessons from a pair of siblings with BPAN.

Zarate YA, Jones JR, Jones MA, Millan F, Juusola J, Vertino-Bell A, Schaefer GB, Kruer MC. Zarate YA, et al. Eur J Hum Genet. 2016 Jul;24(7):1095. doi: 10.1038/ejhg.2015.274. Eur J Hum Genet. 2016. PMID: 27307113 Free PMC article. No abstract available.

6

Genetic causes of macroglossia: diagnostic approach.

Prada CE, Zarate YA, Hopkin RJ. Prada CE, et al. Among authors: zarate ya. Pediatrics. 2012 Feb;129(2):e431-7. doi: 10.1542/peds.2011-1732. Epub 2012 Jan 16. Pediatrics. 2012. PMID: 22250026

7

Radioulnar Synostosis and Brain Abnormalities in a Patient With 17q21.31 Microdeletion Involving EFTUD2.

Zarate YA, Bell C, Schaefer GB. Zarate YA, et al. Cleft Palate Craniofac J. 2015 Mar;52(2):237-9. doi: 10.1597/13-221. Epub 2014 May 7. Cleft Palate Craniofac J. 2015. PMID: 24805776

8

Twin-twin transfusion resulting in fetal cell contamination in Beckwith-Wiedemann syndrome.

Zarate YA, Hopkin RJ. Zarate YA, et al. Am J Med Genet A. 2009 Jul;149A(7):1569-70. doi: 10.1002/ajmg.a.32903. Am J Med Genet A. 2009. PMID: 19533777 No abstract available.

9

Frequency and age at occurrence of clinical manifestations of disease in patients with hypophosphatasia: a systematic literature review.

Szabo SM, Tomazos IC, Petryk A, Powell LC, Donato BMK, Zarate YA, Tiulpakov A, Martos-Moreno GÁ. Szabo SM, et al. Among authors: zarate ya. Orphanet J Rare Dis. 2019 Apr 25;14(1):85. doi: 10.1186/s13023-019-1062-0. Orphanet J Rare Dis. 2019. PMID: 31023354 Free PMC article.

10

A case of minimal change disease in a Fabry patient.

Zarate YA, Patterson L, Yin H, Hopkin RJ. Zarate YA, et al. Pediatr Nephrol. 2010 Mar;25(3):553-6. doi: 10.1007/s00467-009-1353-0. Epub 2009 Oct 30. Pediatr Nephrol. 2010. PMID: 19876652

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