Found: 48
Select item for more details and to access through your institution.
Spina bifida subtypes and sub-phenotypes by maternal race/ethnicity in the National Birth Defects Prevention Study.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 1, p. 109, doi. 10.1002/ajmg.a.34383
- By:
- Publication type:
- Article
Renal anomalies in Alagille syndrome: A disease-defining feature.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 1, p. 85, doi. 10.1002/ajmg.a.34369
- By:
- Publication type:
- Article
A family of pseudohypoparathyroidism type Ia with an 850-kb submicroscopic deletion encompassing the whole GNAS locus.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 1, p. 261, doi. 10.1002/ajmg.a.34393
- By:
- Publication type:
- Article
Recombinant chromosome 7 in a mosaic 45,X/47,XXX patient.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 1, p. 206, doi. 10.1002/ajmg.a.34364
- By:
- Publication type:
- Article
Duplication of the ZIC2 gene is not associated with holoprosencephaly.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 1, p. 103, doi. 10.1002/ajmg.a.34375
- By:
- Publication type:
- Article
Barriers to diagnosis of a rare neurological disorder in China-Lived experiences of Rett syndrome families.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 1, p. 1, doi. 10.1002/ajmg.a.34351
- By:
- Publication type:
- Article
Trends in occurrence of twin births in Japan.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 1, p. 75, doi. 10.1002/ajmg.a.34362
- By:
- Publication type:
- Article
MBTPS2 mutation causes BRESEK/BRESHECK syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 1, p. 97, doi. 10.1002/ajmg.a.34373
- By:
- Publication type:
- Article
Detection of a novel FH whole gene deletion in the propositus leading to subsequent prenatal diagnosis in a sibship with fumarase deficiency.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 1, p. 155, doi. 10.1002/ajmg.a.34344
- By:
- Publication type:
- Article
SMC1A codon 496 mutations affect the cellular response to genotoxic treatments.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 1, p. 224, doi. 10.1002/ajmg.a.34384
- By:
- Publication type:
- Article
Long QT, syndactyly, joint contractures, stroke and novel CACNA1C mutation: Expanding the spectrum of Timothy syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 1, p. 182, doi. 10.1002/ajmg.a.34355
- By:
- Publication type:
- Article
Auriculo-condylar syndrome. Confronting a diagnostic challenge.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 1, p. 59, doi. 10.1002/ajmg.a.34337
- By:
- Publication type:
- Article
Absence of COCH gene mutations in patients with superior semicircular canal dehiscence.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 1, p. 251, doi. 10.1002/ajmg.a.34377
- By:
- Publication type:
- Article
Array-CGH and clinical characterization in a patient with subtelomeric 6p deletion without ocular dysgenesis.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 1, p. 150, doi. 10.1002/ajmg.a.34308
- By:
- Publication type:
- Article
CDKN1C mutations and genital anomalies.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 1, p. 265, doi. 10.1002/ajmg.a.34388
- By:
- Publication type:
- Article
In this issue.
- Published in:
- 2012
- Publication type:
- Other
Consensus recommendations for current treatments and accelerating clinical trials for patients with neurofibromatosis type 2.
- Published in:
- 2012
- By:
- Publication type:
- Other
Table of Contents, Volume 158A, Number 1, January 2012.
- Published in:
- 2012
- Publication type:
- Other
A patient with a mild holoprosencephaly spectrum phenotype and heterotaxy and a 1.3 Mb deletion encompassing GLI2.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 1, p. 166, doi. 10.1002/ajmg.a.34350
- By:
- Publication type:
- Article
Mild nasal malformations and parietal foramina caused by homozygous ALX4 mutations.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 1, p. 236, doi. 10.1002/ajmg.a.34390
- By:
- Publication type:
- Article
A re-examination of the use of ethnicity in prenatal carrier testing.
- Published in:
- 2012
- By:
- Publication type:
- Editorial
The diagnostic odyssey to Rett syndrome: The experience of an Australian family.
- Published in:
- 2012
- By:
- Publication type:
- Other
Regional variation in prevalence of oral cleft live births in the Netherlands 1997-2007: Time-trend analysis of data from three Dutch registries.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 1, p. 66, doi. 10.1002/ajmg.a.34343
- By:
- Publication type:
- Article
Phenotype of FOXP2 haploinsufficiency in a mother and son.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 1, p. 174, doi. 10.1002/ajmg.a.34354
- By:
- Publication type:
- Article
Trends in cytogenetic testing and identification of chromosomal abnormalities among pregnancies and children with birth defects, metropolitan Atlanta, 1968-2005.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 1, p. 116, doi. 10.1002/ajmg.a.34385
- By:
- Publication type:
- Article
Vestibular schwannomas occur in schwannomatosis and should not be considered an exclusion criterion for clinical diagnosis.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 1, p. 215, doi. 10.1002/ajmg.a.34376
- By:
- Publication type:
- Article
Congenital disorder of glycosylation IIa: The trouble with diagnosing a dysmorphic inborn error of metabolism.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 1, p. 245, doi. 10.1002/ajmg.a.34347
- By:
- Publication type:
- Article
A 16q12 microdeletion in a boy with severe psychomotor delay, craniofacial dysmorphism, brain and limb malformations, and a heart defect.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 1, p. 229, doi. 10.1002/ajmg.a.34387
- By:
- Publication type:
- Article
Atypical achondroplasia due to somatic mosaicism for the common thanatophoric dysplasia mutation R248C.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 1, p. 247, doi. 10.1002/ajmg.a.34358
- By:
- Publication type:
- Article
American Journal of Medical Genetics Part A: Volume 158A, Number 1, January 2012.
- Published in:
- 2012
- Publication type:
- Other
More accurate Down syndrome screening test hits the market.
- Published in:
- 2012
- Publication type:
- Other
In-frame multi-exon deletion of SMC1A in a severely affected female with Cornelia de Lange Syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 1, p. 193, doi. 10.1002/ajmg.a.34360
- By:
- Publication type:
- Article
Retrospective analysis of the clinical manifestations and survival of Korean patients with mucopolysaccharidosis type II: Emphasis on the cardiovascular complication and mortality cases.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 1, p. 90, doi. 10.1002/ajmg.a.34371
- By:
- Publication type:
- Article
Jacobsen syndrome due to an unbalanced translocation between 11q23 and 22q11.2 identified at age 40 years.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 1, p. 220, doi. 10.1002/ajmg.a.34382
- By:
- Publication type:
- Article
A novel familial 11p15.4 microduplication associated with intellectual disability, dysmorphic features, and obesity with involvement of the ZNF214 gene.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 1, p. 50, doi. 10.1002/ajmg.a.34290
- By:
- Publication type:
- Article
The 8th international research symposium on the Marfan Syndrome and related conditions.
- Published in:
- 2012
- By:
- Publication type:
- Other
The evaluation of cascade testing for familial hypercholesterolemia.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 1, p. 78, doi. 10.1002/ajmg.a.34368
- By:
- Publication type:
- Article
Familial Poland anomaly revisited.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 1, p. 140, doi. 10.1002/ajmg.a.34370
- By:
- Publication type:
- Article
HHS recommends pulse oximetry for newborns.
- Published in:
- 2012
- Publication type:
- Other
Erratam to novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 1, p. 267, doi. 10.1002/ajmg.a.34312
- By:
- Publication type:
- Article
Microtia: Epidemiology and genetics.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 1, p. 124, doi. 10.1002/ajmg.a.34352
- By:
- Publication type:
- Article
Corrigendum to 'Overview of German, Nazi, and Holocaust Medicine. Am J Med Genet 152A:687-707, 2010'.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 1, p. 266, doi. 10.1002/ajmg.a.34323
- By:
- Publication type:
- Article
Early infantile epileptic encephalopathy associated with the disrupted gene encoding Slit-Robo Rho GTPase activating protein 2 ( SRGAP2).
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 1, p. 199, doi. 10.1002/ajmg.a.34363
- By:
- Publication type:
- Article
Split hand-split foot-ectodermal dysplasia and amelogenesis imperfecta with a TP63 mutation.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 1, p. 188, doi. 10.1002/ajmg.a.34356
- By:
- Publication type:
- Article
Medical care of adolescents and women with Rett syndrome: An Italian study.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 1, p. 13, doi. 10.1002/ajmg.a.34367
- By:
- Publication type:
- Article
Maternally and paternally inherited deletion of 7q31 involving the FOXP2 gene in two families.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 1, p. 254, doi. 10.1002/ajmg.a.34378
- By:
- Publication type:
- Article
Chromosomal loss of 3q26.3-3q26.32, involving a partial neuroligin 1 deletion, identified by genomic microarray in a child with microcephaly, seizure disorder, and severe intellectual disability.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 1, p. 159, doi. 10.1002/ajmg.a.34349
- By:
- Publication type:
- Article
Long-term neuroimaging follow-up on an asymptomatic juvenile metachromatic leukodystrophy patient after hematopoietic stem cell transplantation: Evidence of myelin recovery and ongoing brain maturation.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 1, p. 257, doi. 10.1002/ajmg.a.34389
- By:
- Publication type:
- Article