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Journal of Perinatology : Official Journal of the California Perinatal Association
|
April 30, 2004
Intramural bronchogenic cyst in the carina observed in a neonate and treated by needle aspiration: a case report
Christophe Gaugler, Lionel Donato, Serge Rivera, et al.
Journal of Perinatology : Official Journal of the California Perinatal Association
|
April 7, 2004
Neonatal necrotizing tracheobronchitis: three case reports
Christophe Gaugler, Dominique Astruc, Lionel Donato, et al.
Child'S Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery
|
June 10, 2022
Hypothalamic hamartoma associated with polymicrogyria and periventricular nodular heterotopia in children: report of three cases and discussion of the origin of the seizures
Martine Fohlen, Delphine Taussig, Jerry Blustajn, et al.
European Journal of Pediatrics
|
October 8, 2005
Congenital hyperekplexia: five sporadic cases
Serge Rivera, Frédéric Villega, Anne de Saint-Martin, et al.
Clinical Genetics
|
April 4, 2019
Consensus recommendations for diagnosis, management and treatment of Fabry disease in paediatric patients
Dominique P Germain, Alain Fouilhoux, Stéphane Decramer, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
July 23, 2020
Early-onset epileptic encephalopathy related to germline PIGA mutations: A series of 5 cases
Sébastien Cabasson, Julien Van-Gils, Frédéric Villéga, et al.
Plos Genetics
|
February 14, 2009
Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females
Christel Depienne, Delphine Bouteiller, Boris Keren, et al.
Neurology
|
April 19, 2023
Prospective Multicenter Validation of a Simple Blood Test for the Diagnosis of Glut1 Deficiency Syndrome
Fanny Mochel, Domitille Gras, Marie-Pierre Luton, et al.
The Journal of Biological Chemistry
|
June 16, 2012
Mutations in the GlyT2 gene (SLC6A5) are a second major cause of startle disease
Eloisa Carta, Seo-Kyung Chung, Victoria M James, et al.
Journal of Medical Genetics
|
March 19, 2021
Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency
Abdellah Tebani, Bénédicte Sudrié-Arnaud, Ivana Dabaj, et al.
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Search research articles
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Showing results (1-10 of 10) with videos related to
Sort By:
Page
of 1
Journal of Perinatology : Official Journal of the California Perinatal Association
|
April 30, 2004
Intramural bronchogenic cyst in the carina observed in a neonate and treated by needle aspiration: a case report
Christophe Gaugler, Lionel Donato, Serge Rivera, et al.
Journal of Perinatology : Official Journal of the California Perinatal Association
|
April 7, 2004
Neonatal necrotizing tracheobronchitis: three case reports
Christophe Gaugler, Dominique Astruc, Lionel Donato, et al.
Child'S Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery
|
June 10, 2022
Hypothalamic hamartoma associated with polymicrogyria and periventricular nodular heterotopia in children: report of three cases and discussion of the origin of the seizures
Martine Fohlen, Delphine Taussig, Jerry Blustajn, et al.
European Journal of Pediatrics
|
October 8, 2005
Congenital hyperekplexia: five sporadic cases
Serge Rivera, Frédéric Villega, Anne de Saint-Martin, et al.
Clinical Genetics
|
April 4, 2019
Consensus recommendations for diagnosis, management and treatment of Fabry disease in paediatric patients
Dominique P Germain, Alain Fouilhoux, Stéphane Decramer, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
July 23, 2020
Early-onset epileptic encephalopathy related to germline PIGA mutations: A series of 5 cases
Sébastien Cabasson, Julien Van-Gils, Frédéric Villéga, et al.
Plos Genetics
|
February 14, 2009
Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females
Christel Depienne, Delphine Bouteiller, Boris Keren, et al.
Neurology
|
April 19, 2023
Prospective Multicenter Validation of a Simple Blood Test for the Diagnosis of Glut1 Deficiency Syndrome
Fanny Mochel, Domitille Gras, Marie-Pierre Luton, et al.
The Journal of Biological Chemistry
|
June 16, 2012
Mutations in the GlyT2 gene (SLC6A5) are a second major cause of startle disease
Eloisa Carta, Seo-Kyung Chung, Victoria M James, et al.
Journal of Medical Genetics
|
March 19, 2021
Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency
Abdellah Tebani, Bénédicte Sudrié-Arnaud, Ivana Dabaj, et al.
Page
of 1