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Journal of Neuromuscular Diseases
|
July 17, 2018
Prenatal, Neonatal, and Early Childhood Features in Congenital Myotonic Dystrophy
Eugenio Zapata-Aldana, Delia Ceballos-Sáenz, Rhiannon Hicks, et al.
American Journal of Medical Genetics. Part A
|
April 3, 2019
Distal arthrogryposis type 5 and PIEZO2 novel variant in a Canadian family
Eugenio Zapata-Aldana, Sulaiman B Al-Mobarak, Natalya Karp, et al.
Clinical Dysmorphology
|
November 2, 2020
Female congenital aphallia: a unique case of congenital absence of the clitoris with an ectopic labium majorum
Mahmoud Almutadares, Jane Evans, Elizabeth Sellers, et al.
European Journal of Medical Genetics
|
September 1, 2022
"Cancer in ARID1A-Coffin-Siris syndrome: Review and report of a child with hepatoblastoma"
Benjamín Cárcamo, Barbara Masotto, Anna Baquero-Vaquer, et al.
Muscle & Nerve
|
May 11, 2019
Body composition in patients with congenital myotonic dystrophy
Delia Ceballos-Sáenz, Eugenio Zapata-Aldana, Stephanie Singeris, et al.
European Journal of Medical Genetics
|
August 14, 2018
Further delineation of TBCK - Infantile hypotonia with psychomotor retardation and characteristic facies type 3
Eugenio Zapata-Aldana, David Dongkyung Kim, Salma Remtulla, et al.
Clinical Genetics
|
May 11, 2023
Pigmentation abnormalities in Coffin-Siris syndrome
Eugenio Zapata-Aldana, Delia Ceballos-Sáenz, Jorge Rodrigo Vásquez-Ríos, et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques
|
August 4, 2020
Genetic Testing in Children with Epilepsy: Report of a Single-Center Experience
So Lee, Natalya Karp, Eugenio Zapata-Aldana, et al.
Journal of Neuromuscular Diseases
|
June 23, 2019
A Phenotypic Description of Congenital Myotonic Dystrophy using PhenoStacks
Madhavi Prasad, Michael Glueck, Delia Ceballos-Saenz, et al.
Neuromuscular Disorders : NMD
|
November 6, 2016
Pharmacological therapy for the prevention and management of cardiomyopathy in Duchenne muscular dystrophy: A systematic review
Basmah El-Aloul, Luis Altamirano-Diaz, Eugenio Zapata-Aldana, et al.
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of 2
Search research articles
Search
Showing results (1-10 of 15) with videos related to
Sort By:
Page
of 2
Journal of Neuromuscular Diseases
|
July 17, 2018
Prenatal, Neonatal, and Early Childhood Features in Congenital Myotonic Dystrophy
Eugenio Zapata-Aldana, Delia Ceballos-Sáenz, Rhiannon Hicks, et al.
American Journal of Medical Genetics. Part A
|
April 3, 2019
Distal arthrogryposis type 5 and PIEZO2 novel variant in a Canadian family
Eugenio Zapata-Aldana, Sulaiman B Al-Mobarak, Natalya Karp, et al.
Clinical Dysmorphology
|
November 2, 2020
Female congenital aphallia: a unique case of congenital absence of the clitoris with an ectopic labium majorum
Mahmoud Almutadares, Jane Evans, Elizabeth Sellers, et al.
European Journal of Medical Genetics
|
September 1, 2022
"Cancer in ARID1A-Coffin-Siris syndrome: Review and report of a child with hepatoblastoma"
Benjamín Cárcamo, Barbara Masotto, Anna Baquero-Vaquer, et al.
Muscle & Nerve
|
May 11, 2019
Body composition in patients with congenital myotonic dystrophy
Delia Ceballos-Sáenz, Eugenio Zapata-Aldana, Stephanie Singeris, et al.
European Journal of Medical Genetics
|
August 14, 2018
Further delineation of TBCK - Infantile hypotonia with psychomotor retardation and characteristic facies type 3
Eugenio Zapata-Aldana, David Dongkyung Kim, Salma Remtulla, et al.
Clinical Genetics
|
May 11, 2023
Pigmentation abnormalities in Coffin-Siris syndrome
Eugenio Zapata-Aldana, Delia Ceballos-Sáenz, Jorge Rodrigo Vásquez-Ríos, et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques
|
August 4, 2020
Genetic Testing in Children with Epilepsy: Report of a Single-Center Experience
So Lee, Natalya Karp, Eugenio Zapata-Aldana, et al.
Journal of Neuromuscular Diseases
|
June 23, 2019
A Phenotypic Description of Congenital Myotonic Dystrophy using PhenoStacks
Madhavi Prasad, Michael Glueck, Delia Ceballos-Saenz, et al.
Neuromuscular Disorders : NMD
|
November 6, 2016
Pharmacological therapy for the prevention and management of cardiomyopathy in Duchenne muscular dystrophy: A systematic review
Basmah El-Aloul, Luis Altamirano-Diaz, Eugenio Zapata-Aldana, et al.
Page
of 2