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1 . Academic Journal
TRAPPC11-CDG muscular dystrophy: Review of 54 cases including a novel patient
저자
by
Corona-Rivera, Jorge Román
;
Martínez-Duncker, Iván
;
Morava, Eva
;
Ranatunga, Wasantha
;
Salinas-Marin, Roberta
, et al.
소스
In
Molecular Genetics and Metabolism
May 2024 142(1)
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7 . Academic Journal
MTSS2-related neurodevelopmental disorder: Further delineation of the phenotype
저자
by
Corona-Rivera, Jorge Román
;
Zenteno, Juan Carlos
;
Ordoñez-Labastida, Vianey
;
Cruz-Cruz, Jessica Paola
;
Cortés-Pastrana, Rocío Carolina
, et al.
소스
In
European Journal of Medical Genetics
October 2023 66(10)
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7 . Academic Journal
Intrafamilial phenotypic variability in autosomal recessive DOCK6-related Adams-Oliver syndrome
저자
by
Zepeda-Romero, Luz Consuelo
;
Zenker, Martin
;
Schanze, Denny
;
Schanze, Ina
;
Peña-Padilla, Christian
, et al.
소스
In
European Journal of Medical Genetics
December 2022 65(12)
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7 . Academic Journal
Acute liver failure in a male patient with NGLY1-congenital disorder of deglycosylation
저자
by
Rios-Flores, Izabel Maryalexandra
;
Bonal-Pérez, Miguel Ángel
;
Castellanos-González, Abril
;
Velez-Gómez, Ezequiel
;
Bertoli-Avella, Aida M.
, et al.
소스
In
European Journal of Medical Genetics
August 2020 63(8)
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7 . Academic Journal
MTHFR 677C>T and 1298A>C Variants in Mothers of Infants with Down Syndrome from Western Mexico.
저자
by
Romero-Bolaño, Yaneris Maibeth
;
Bobadilla-Morales, Lucina
;
Corona-Rivera, Alfredo
;
Cuero-Quezada, Idalid
;
Santana-Hernández, Jennifer
, et al.
소스
Genetic Testing & Molecular Biomarkers
. Jun2024, Vol. 28 Issue 6, p263-266. 4p.
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7 . Academic Journal
Unusual retrospective prenatal findings in a male newborn with Timothy syndrome type 1
저자
by
Corona-Rivera, J. Román
;
Barrios-Prieto, Ernesto
;
Nieto-García, Rafael
;
Bloise, Raffaella
;
Priori, Silvia
, et al.
소스
In
European Journal of Medical Genetics
June-July 2015 58(6-7):332-335
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7 . Academic Journal
A Family with EEC Syndrome in the Son and ADULT Syndrome in His Father Caused by the c.797G>A (p.Arg266Gln) Pathogenic Variant in the TP63 Gene.
저자
by
Corona-Rivera, Jorge Román
;
Rios-Flores, Izabel Maryalexandra
;
Zenteno, Juan Carlos
;
Peña-Padilla, Christian
;
Castillo-Reyes, Katia
, et al.
소스
Molecular Syndromology; 2024, Vol. 15 Issue 1, p51-57, 7p
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7 . Academic Journal
An Innovative AI-based primer design tool for precise and accurate detection of SARS-CoV-2 variants of concern.
저자
by
Perez-Romero, Carmina Angelica
;
Mendoza-Maldonado, Lucero
;
Tonda, Alberto
;
Coz, Etienne
;
Tabeling, Patrick
, et al.
소스
Scientific Reports
. 11/18/2023, Vol. 13 Issue 1, p1-12. 12p.
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7 . Academic Journal
Aneurysms involving the coronary arteries in a neonate with neurofibromatosis 1.
저자
by
Corona‐Rivera, Jorge Román
;
Barrios‐Prieto, Ernestro
;
Rivera‐Ramírez, Berenice
;
Sánchez‐Uribe, Enndy Hollyver
;
Cortés‐Pastrana, Rocío Carolina
, et al.
소스
American Journal of Medical Genetics. Part A; Sep2023, Vol. 191 Issue 9, p2422-2427, 6p
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7 . Academic Journal
First Report of Mexican Patients with PACS1-Related Neurodevelopmental Disorder and Review of the PACS1-, PACS2-, and WDR37-Related Ophthalmological Manifestations.
저자
by
Corona-Rivera, Jorge Román
;
Zenteno, Juan Carlos
;
López-Pérez, Leopoldo Gildardo
;
Yokoyama-Rebollar, Emiy
;
Villarroel, Camilo E.
, et al.
소스
Molecular Syndromology; 2023, Vol. 14 Issue 2, p143-151, 9p
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