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1

Oblique facial clefts in Johanson-Blizzard syndrome

Corona-Rivera, Jorge Román, Zapata-Aldana, Eugenio, Bobadilla-Morales, Lucina, Corona-Rivera, Alfredo, Peña-Padilla, Christian, Solis-Hernández, Elizabeth, Guzmán, Celina, Richmond, Erick, Zahl, Chris

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 4.54 MB

english, 2016

2

NEXT GENERATION SEQUENCING AND EXPERIMENTAL MYOLOGY

Zapata-Aldana, E., Campbell, C.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 67 KB

english, 2018

3

Muscle problems in juvenile-onset acid maltase deficiency (Pompe disease)

Zapata-Aldana, Eugenio, McMillan, Hugh J, Rupar, Tony, Brunel-Guitton, Catherine, Chakraborty, Pranesh, Mitchell, John J, Roth, Johannes, Tarnopolsky, Mark A, Turner, Lesley, Campbell, Craig

Journal:

Paediatrics & child health

Year:

2019

Language:

english

File:

PDF, 120 KB

english, 2019

4

FACTORS ASSOCIATED WITH HEALTH-RELATED QUALITY OF LIFE IN CHILDREN WITH CONGENITAL MYOTONIC DYSTROPHY

Rogers, S, Hicks, R, Bax, K, Ceballos-Saenz, D, El-Aloul, B, Dibella, D, Pucillo, E, Johnson, N, Campbell, C, Zapata-Aldana, E

Journal:

Paediatrics & child health

Year:

2017

File:

PDF, 103 KB

2017

5

B.07 Review of patients with Spinal Muscular Atrophy treated with Nusinersen in Ontario

Remtulla, S, Zapata-Aldana, E, Gonorazky, H, Boyd, J, Scholtes, C, Hicks, R, Leung, A, Dowling, J, Vajsar, J, McMillan, H, Tarnopolsky, M, Campbell, C

Journal:

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques

Year:

2018

Language:

english

File:

PDF, 36 KB

english, 2018

6

Unusual retrospective prenatal findings in a male newborn with Timothy syndrome type 1

Corona-Rivera, J. Román, Barrios-Prieto, Ernesto, Nieto-García, Rafael, Bloise, Raffaella, Priori, Silvia, Napolitano, Carlo, Bobadilla-Morales, Lucina, Corona-Rivera, Alfredo, Zapata-Aldana, Eugenio,

Journal:

European Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 1.01 MB

english, 2015

7

Prenatal, Neonatal, and Early Childhood Features in Congenital Myotonic Dystrophy

Zapata-Aldana, Eugenio, Ceballos-Sáenz, Delia, Hicks, Rhiannon, Campbell, Craig

Journal:

Journal of Neuromuscular Diseases

Year:

2018

Language:

english

File:

PDF, 93 KB

english, 2018

8

PERINATAL FINDINGS IN A CONGENITAL MYOTONIC DYSTROPHY COHORT

Ceballos-Saenz, D, Zapata-Aldana, E, Hicks, R, Campbell, C

Journal:

Paediatrics & child health

Year:

2017

Language:

english

File:

PDF, 127 KB

english, 2017

9

A Phenotypic Description of Congenital Myotonic Dystrophy using PhenoStacks

Prasad, Madhavi, Glueck, Michael, Ceballos-Saenz, Delia, Zapata-Aldana, Eugenio, Johnson, Nicholas, Campbell, Craig, Emilie Nguyen, Cam-Tu

Journal:

Journal of Neuromuscular Diseases

Year:

2019

File:

PDF, 953 KB

2019

10

P.077 Utility of a next generation sequencing in the diagnosis of Congenital Myasthenic Syndromes

Zapata-Aldana, E, Nguyen, CE, Nicolle, MW, Carere, DA, Stuart, A, Campbell, C, Sadikovic, B

Journal:

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques

Year:

2018

Language:

english

File:

PDF, 36 KB

english, 2018

11

Genetic Testing in children with Epilepsy: Report of a Single Centre Experience

Lee, So, Karp, Natalya, Zapata-Aldana, Eugenio, Sadikovic, Bekim, Yang, Ping, Balci, Tugce B, Prasad, Asuri N

Journal:

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques

Year:

2020

File:

PDF, 454 KB

2020

12

PERINATAL FINDINGS IN A CONGENITAL MYOTONIC DYSTROPHY COHORT

Ceballos-Saenz, D, Zapata-Aldana, E, Hicks, R, Campbell, C

Journal:

Paediatrics & child health

Year:

2017

File:

PDF, 127 KB

2017

13

Pharmacological therapy for the prevention and management of cardiomyopathy in duchenne muscular dystrophy: a systematic review

El-Aloul, Basmah, Altamirano-Diaz, Luis, Zapata-Aldana, Eugenio, Rodrigues, Rebecca, Malvankar-Mehta, Monali S., Nguyen, Cam-Tu, Campbell, Craig

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 1.15 MB

english, 2016

14

B.07 Review of patients with Spinal Muscular Atrophy treated with Nusinersen in Ontario

Remtulla, S, Zapata-Aldana, E, Gonorazky, H, Boyd, J, Scholtes, C, Hicks, R, Leung, A, Dowling, J, Vajsar, J, McMillan, H, Tarnopolsky, M, Campbell, C

Journal:

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques

Year:

2018

File:

PDF, 36 KB

2018

15

Further delineation of TBCK - Infantile hypotonia with psychomotor retardation and characteristic facies type 3

Zapata-Aldana, Eugenio, Kim, David Dongkyung, Remtulla, Salma, Prasad, Chitra, Nguyen, Cam-Tu, Campbell, Craig

Journal:

European Journal of Medical Genetics

Year:

2018

Language:

english

File:

PDF, 1.16 MB

english, 2018

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