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European Journal of Medical Genetics
|
November 15, 2020
CHARGE syndrome in the era of molecular diagnosis: Similar outcomes in those without coloboma or choanal atresia
Brittany N Simpson, Divya Khattar, Howard Saal, et al.
The Journal of Pediatrics
|
July 26, 2011
Cardiac disease in methylmalonic acidemia
Carlos E Prada, Fatma Al Jasmi, Edwin P Kirk, et al.
Prenatal Diagnosis
|
October 28, 2011
Severe cervical scoliosis in the fetus
Carlos E Prada, Elizabeth A Sellars, Christine G Spaeth, et al.
European Journal of Medical Genetics
|
April 29, 2014
Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis
Carlos E Prada, Claudia Gonzaga-Jauregui, Rebecca Tannenbaum, et al.
Molecular Genetics and Metabolism
|
November 24, 2023
Treatment-naive and post-treatment glucosylsphingosine (lyso-GL1) levels in a cohort of pediatric patients with Gaucher disease
Carly A Rasmussen, Allegra Quadri, Erika Vucko, et al.
Revista Espanola De Cirugia Ortopedica Y Traumatologia (English Ed.)
|
January 16, 2019
Ewing sarcoma, analysis of survival at 6 years with multidisciplinary therapy
E Borrego-Paredes, E Prada-Chamorro, S Chacón-Cartaya, et al.
Andrology
|
November 21, 2013
Human semen cryopreservation: a sperm DNA fragmentation study with alkaline and neutral Comet assay
J Ribas-Maynou, A Fernández-Encinas, A García-Peiró, et al.
Andrology
|
July 12, 2013
Comprehensive analysis of sperm DNA fragmentation by five different assays: TUNEL assay, SCSA, SCD test and alkaline and neutral Comet assay
J Ribas-Maynou, A García-Peiró, A Fernández-Encinas, et al.
Molecular Genetics and Metabolism Reports
|
May 17, 2021
Hyperleucinosis during infections in maple syrup urine disease post liver transplantation
Laura Guilder, Carlos E Prada, Sofia Saenz, et al.
The Journal of Pediatrics
|
October 15, 2011
Pediatric plexiform neurofibromas: impact on morbidity and mortality in neurofibromatosis type 1
Carlos E Prada, Fatima A Rangwala, Lisa J Martin, et al.
Page
of 16
Search research articles
Search
Showing results (71-80 of 155) with videos related to
Sort By:
Page
of 16
European Journal of Medical Genetics
|
November 15, 2020
CHARGE syndrome in the era of molecular diagnosis: Similar outcomes in those without coloboma or choanal atresia
Brittany N Simpson, Divya Khattar, Howard Saal, et al.
The Journal of Pediatrics
|
July 26, 2011
Cardiac disease in methylmalonic acidemia
Carlos E Prada, Fatma Al Jasmi, Edwin P Kirk, et al.
Prenatal Diagnosis
|
October 28, 2011
Severe cervical scoliosis in the fetus
Carlos E Prada, Elizabeth A Sellars, Christine G Spaeth, et al.
European Journal of Medical Genetics
|
April 29, 2014
Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis
Carlos E Prada, Claudia Gonzaga-Jauregui, Rebecca Tannenbaum, et al.
Molecular Genetics and Metabolism
|
November 24, 2023
Treatment-naive and post-treatment glucosylsphingosine (lyso-GL1) levels in a cohort of pediatric patients with Gaucher disease
Carly A Rasmussen, Allegra Quadri, Erika Vucko, et al.
Revista Espanola De Cirugia Ortopedica Y Traumatologia (English Ed.)
|
January 16, 2019
Ewing sarcoma, analysis of survival at 6 years with multidisciplinary therapy
E Borrego-Paredes, E Prada-Chamorro, S Chacón-Cartaya, et al.
Andrology
|
November 21, 2013
Human semen cryopreservation: a sperm DNA fragmentation study with alkaline and neutral Comet assay
J Ribas-Maynou, A Fernández-Encinas, A García-Peiró, et al.
Andrology
|
July 12, 2013
Comprehensive analysis of sperm DNA fragmentation by five different assays: TUNEL assay, SCSA, SCD test and alkaline and neutral Comet assay
J Ribas-Maynou, A García-Peiró, A Fernández-Encinas, et al.
Molecular Genetics and Metabolism Reports
|
May 17, 2021
Hyperleucinosis during infections in maple syrup urine disease post liver transplantation
Laura Guilder, Carlos E Prada, Sofia Saenz, et al.
The Journal of Pediatrics
|
October 15, 2011
Pediatric plexiform neurofibromas: impact on morbidity and mortality in neurofibromatosis type 1
Carlos E Prada, Fatima A Rangwala, Lisa J Martin, et al.
Page
of 16