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Pediatrics, ISSN 0031-4005, 2011, Volume 128, Issue 2, pp. 393 - 406
These guidelines are designed to assist the pediatrician in caring for the child in whom a diagnosis of Down syndrome has been confirmed by chromosome... 
SERUM FERRITIN | 1ST-TRIMESTER | THYROID-DYSFUNCTION | OCULAR FINDINGS | INFANTS | DISORDERS | PEDIATRICS | ATLANTOAXIAL INSTABILITY | CHROMOSOMAL-ABNORMALITIES | YOUNG-CHILDREN | CELIAC-DISEASE
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 11/2018, Volume 176, Issue 11, pp. 2259 - 2275
De novo germline mutations in GNB1 have been associated with a neurodevelopmental phenotype. To date, 28 patients with variants classified as pathogenic have... 
developmental disabilities | seizures | mastocytosis | hypotonia | whole exome sequencing | GNB1 | GENETICS & HEREDITY | SUBUNITS | GROSS MOTOR FUNCTION | Gene mutations | Genetic aspects | Seizures (Medicine) | Literature reviews | Genotype & phenotype | Mastocytosis | Phenotypes | Mosaicism | Dystonia | Mutation | Patients | Genotypes
Journal Article
Annals of the Rheumatic Diseases, ISSN 0003-4967, 06/2016, Volume 53, Issue 6, p. 427
OBJECTIVES: Agricultural workers are known to have occupational skin diseases. The prevalence and pattern of skin diseases are unknown in Taiwanese fruit... 
Journal Article
Genetics in Medicine, ISSN 1098-3600, 05/2013, Volume 15, Issue 5, pp. 399 - 407
The autism spectrum disorders are a collective of conditions that have in common impaired socialization and communication in association with stereotypic... 
tiered evaluations | Asperger syndrome | diagnostic yield | autism | pervasive developmental disorders | GENETICS & HEREDITY | Child Development Disorders, Pervasive - genetics | Child | Humans | Child Development Disorders, Pervasive - diagnosis
Journal Article
Archives of Disease in Childhood, ISSN 0017-5749, 01/1978, Volume 53, Issue 1, p. 62
Background and aims: The general concept is that as Vibrio cholerae is not invasive, it mediates a non-inflammatory type of infection. This is being... 
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 2015, Volume 53, Issue 1, p. 62
BACKGROUND: Joubert syndrome (JS) is a recessive ciliopathy characterised by a distinctive brain malformation 'the molar tooth sign'. Mutations in >27 genes... 
Journal Article
American Journal of Medical Genetics, Part A, ISSN 1552-4825, 02/2013, Volume 161, Issue 2, pp. 401 - 402
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 05/2013, Volume 109, Issue 1, pp. 41 - 48
Hunter syndrome (mucopolysaccharidosis type II) is a rare and life-limiting multisystemic disorder with an X-linked recessive pattern of inheritance. Short... 
Journal Article
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 02/2013, Volume 161, Issue 2, pp. 401 - 402
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 01/2009, Volume 360, Issue 2, pp. 194 - 195
Journal Article
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