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American Journal of Medical Genetics Part A, ISSN 1552-4825, 01/2020, Volume 182, Issue 1, pp. 20 - 24
Okur‐Chung neurodevelopmental syndrome (OCNS, MIM#617062) is a rare autosomal dominant syndrome related to CSNK2A1 mutations. It is characterized by... 
CSNK2A1 | Okur‐Chung neurodevelopmental syndrome | pituitary gland duplication
Journal Article
Neuropediatrics, 12/2018, Volume 49, Issue 6, p. 408
Phosphomannomutase deficiency (PMM2-CDG) causes a cerebellar syndrome that has been evaluated using the International Cooperative Ataxia Rating Scale (ICARS).... 
Journal Article
International Journal of Molecular Sciences, ISSN 1661-6596, 02/2018, Volume 19, Issue 2, p. 619
Journal Article
Annals of Neurology, ISSN 0364-5134, 05/2019, Volume 85, Issue 5, pp. 740 - 751
Journal Article
Neuropediatrics, ISSN 0174-304X, 12/2018, Volume 49, Issue 6, pp. 408 - 413
Abstract Phosphomannomutase deficiency (PMM2-CDG) causes a cerebellar syndrome that has been evaluated using the International Cooperative Ataxia Rating Scale... 
Short Communication | cerebellar syndrome | magnetic resonance imaging | PMM2-CDG | PHOSPHOMANNOMUTASE DEFICIENCY PMM2-CDG | ATROPHY | ATAXIA RATING-SCALE | DISORDERS | PEDIATRICS | CLINICAL NEUROLOGY | congenital disorders of glycosylation | dysarthria
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 9/2017, Volume 40, Issue 5, pp. 753 - 754
To access, purchase, authenticate, or subscribe to the full-text of this article, please visit this link: http://dx.doi.org/10.1007/s10545-017-0056-0 (6)... 
Human Genetics | Biochemistry, general | Pediatrics | Internal Medicine | Medicine & Public Health | Metabolic Diseases | Medicine, Experimental | Medical research | Medical colleges | Children | Analysis | Diseases | Atrophy | Cerebellum | Phosphomannomutase
Journal Article
Journal Article
Journal Article
Human Mutation, ISSN 1059-7794, 2019, Volume 40, Issue 8, pp. 1013 - 1029
SATB2‐associated syndrome (SAS) is an autosomal dominant neurodevelopmental disorder caused by alterations in the SATB2 gene. Here we present a review of... 
SATB2‐associated syndrome | genotype‐phenotype correlation | pathogenic variants | SATB2 | whole exome sequencing | SATB2-associated syndrome | genotype-phenotype correlation | GENETICS & HEREDITY | Genetic aspects | Codon | Genes | Analysis | Animal models | Phenotypes | Reviews | Nonsense mutation | Coding | Stop codon | Neurodevelopmental disorders | Genotypes | Hereditary diseases
Journal Article
ANALES DE PEDIATRIA, ISSN 1695-4033, 07/2016, Volume 85, Issue 1, pp. 13 - 17
Introduction: Suicide attempt in adolescents is a major global health problem. In order to prevent them, the risks factors need to be identified. The present... 
Poison | PEDIATRICS | Attempted suicide | Adolescent | Emergency Service, Hospital | Humans | Suicide, Attempted - statistics & numerical data | Female | Male | Retrospective Studies | Index Medicus
Journal Article
Anales de Pediatria, ISSN 1695-4033, 07/2016, Volume 85, Issue 1, pp. 13 - 17
Introduction Suicide attempt in adolescents is a major global health problem. In order to prevent them, the risks factors need to be identified. The present... 
Attempted suicide | Poison | Adolescent
Journal Article
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