Topic: Child, Preschool
Journal: American Journal of Medical Genetics. Part A
Documents
A list of abstracts that contain a topic of "Child, Preschool" and a journal name of "American Journal of Medical Genetics. Part A".
A Report on 10 New Patients with Heterozygous Mutations in the Col11a1 Gene and a Review of Genotype-phenotype Correlations in Type Xi Collagenopathies.
PMID: 17236192
Mitochondrial Dysfunction in Brooks-wisniewski-brown Syndrome.
PMID: 16477654
A Syndrome of Immunodeficiency, Autoimmunity, and Spondylometaphyseal Dysplasia.
PMID: 17163538
Trigonocephaly in a Boy with Paternally Inherited Deletion 22q11.2 Syndrome.
PMID: 16691595
Novel Mutations in Dihydrolipoamide Dehydrogenase Deficiency in Two Cousins with Borderline-normal Pdh Complex Activity.
PMID: 16770810
Partial Trisomy of Distal 19q Detected by Quantitative Real-time Pcr and Fish in a Girl with Mild Facial Dysmorphism, Hypotonia and Developmental Delay.
PMID: 17431920
A Case of De Novo Partial Tetrasomy of Distal 6p and Review of the Literature.
PMID: 17663466
Subtelomeric Analysis Detects a Familial 10p;12p Rearrangement in Two Relatives with a Distinct Syndrome.
PMID: 17163546
Whole-genome Array-cgh Identifies Novel Contiguous Gene Deletions and Duplications Associated with Developmental Delay, Mental Retardation, and Dysmorphic Features.
PMID: 17568414
Endochondral Gigantism: a Newly Recognized Skeletal Dysplasia with Pre- and Postnatal Overgrowth and Endocrine Abnormalities.
PMID: 17618504