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1 . Academic Journal
Novel contiguous gene deletion in peruvian girl with Trichothiodystrophy type 4 and glutaric aciduria type 3
저자
by
La Serna-Infantes, Jorge
;
Pastor, Miguel Chávez
;
Trubnykova, Milana
;
Velásquez, Félix Chavesta
;
Sotomayor, Flor Vásquez
, et al.
소스
In
European Journal of Medical Genetics
July 2018 61(7):388-392
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7 . Academic Journal
CYTOGENETIC FINDINGS AND MATERNAL AGE IN PATIENTS WITH DOWN SYNDROME IN A PEDIATRIC REFERRAL HOSPITAL FROM PERU.
저자
by
Mitma de Barrón, Yesica Llimpe
;
Ccoyllo Álvarez, Maribel Susana
;
Trubnykova, Milana
;
González Moreno, Rocío Margarita
.
소스
Revista de la Facultad de Medicina Humana; Jul-Sep2023, Vol. 23 Issue 3, p115-121, 7p
Find it @ DONGA
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6 . Academic Journal
A Pellino‐2 variant is associated with constitutive NLRP3 inflammasome activation in a family with ocular pterygium–digital keloid dysplasia.
저자
by
Cristea, Ileana
;
Abarca, Hugo
;
Christensen Mellgren, Anne E.
;
Trubnykova, Milana
;
Mehrasa, Roya
, et al.
소스
FEBS Letters
. May2023, Vol. 597 Issue 9, p1290-1299. 10p.
Web of Science
Scopus
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7 . Academic Journal
MLPA followed by target‐NGS to detect mutations in the dystrophin gene of Peruvian patients suspected of DMD/DMB.
저자
by
Guevara‐Fujita, María Luisa
;
Huaman‐Dianderas, Francia
;
Obispo, Daisy
;
Sánchez, Rodrigo
;
Barrenechea, Victor
, et al.
소스
Molecular Genetics & Genomic Medicine
. Sep2021, Vol. 9 Issue 9, p1-12. 12p.
Open Access (Wiley)
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7 . Academic Journal
Importancia de la determinación de variantes en el número de copias en neonatos con aneuploidías autosómicas.
저자
by
Abarca, Hugo
;
Trubnykova, Milana
;
Chavesta, Félix
;
Ordóñez, Marco
;
Rondón, Evelina
.
소스
Revista Biomedica
. jun2021, Vol. 41 Issue 2, p282-292. 11p.
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7 . Academic Journal
Phenotypic expansion in KIF1A‐related dominant disorders: A description of novel variants and review of published cases.
저자
by
Montenegro‐Garreaud, Ximena
;
Hansen, Adam W.
;
Khayat, Michael M.
;
Chander, Varuna
;
Grochowski, Christopher M.
, et al.
소스
Human Mutation; Dec2020, Vol. 41 Issue 12, p2094-2104, 11p
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7 . Periodical
Síndrome H: primer caso pediátrico reportado en América Latina
저자
by
Abarca Barriga, Hugo Hernán
;
Trubnykova, Milana
;
Polar Córdoba, Victoria
;
Ramos Diaz, Katherine Joyce
;
Aviles Alfaro, Nélida
.
소스
Revista Chilena de Pediatría; 20240101, Issue: Preprints
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7 . Academic Journal
Variantes en el número de copias en trastornos del neurodesarrollo, síndrome malformativo y talla baja en Perú. (Spanish)
저자
by
Abarca Barriga, Hugo H.
;
Vásquez Sotomayor, Flor de Milagros
;
Trubnykova, Milana
;
Chavesta Velásquez, Félix
;
Chávez Pastor, Miguel A.
, et al.
소스
Acta Médica Peruana; Apr-Jun2020, Vol. 37 Issue 2, p145-155, 11p
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7 . Periodical
Peruvian Newborn Male with 3p13 Deletion Syndrome Encompassing the FOXP1 Gene: Review of the Literature
저자
by
Abarca-Barriga, Hugo H.
;
Trubnykova, Milana
;
Chavesta-Velásquez, Félix
;
Barletta-Carrillo, Claudia
;
Ordoñez-Linares, Marco
, et al.
소스
Journal of Pediatric Genetics; December 2020, Vol. 9 Issue: 4 p270-278, 9p
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7 . Academic Journal
GATAD2B Gene Microdeletion Causing Intellectual Disability Autosomal Dominant Type 18: Case Report and Review of the Literature.
저자
by
Trubnykova, Milana
;
Bazalar Montoya, Jeny
;
La Serna-Infantes, Jorge
;
Vásquez Sotomayor, Flor
;
Castro Mujica, María del Carmen
, et al.
소스
Molecular Syndromology; 2019, Vol. 10 Issue 4, p186-194, 9p
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