Works matching IS 15524825 AND DT 2012 AND VI 158A AND IP 10
Results: 48
Clinical expression in Pfeiffer syndrome type 2 and 3: Surveillance in Japan.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 10, p. 2506, doi. 10.1002/ajmg.a.35590
- By:
- Publication type:
- Article
Beyond Gómez-López-Hernández syndrome: Recurring phenotypic themes in rhombencephalosynapsis.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 10, p. 2393, doi. 10.1002/ajmg.a.35561
- By:
- Publication type:
- Article
Young Spanish researcher wins Opitz award.
- Published in:
- 2012
- Publication type:
- Other
A comprehensive study to determine heterogeneity of autosomal recessive nonsyndromic hearing loss in Iran.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 10, p. 2485, doi. 10.1002/ajmg.a.35572
- By:
- Publication type:
- Article
'I want to know what's in Pandora's box': Comparing stakeholder perspectives on incidental findings in clinical whole genomic sequencing.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 10, p. 2519, doi. 10.1002/ajmg.a.35554
- By:
- Publication type:
- Article
Cleft palate in a multigenerational family with a microdeletion of 20p12.3 involving BMP2.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 10, p. 2616, doi. 10.1002/ajmg.a.35594
- By:
- Publication type:
- Article
Evaluation of genes involved in limb development, angiogenesis, and coagulation as risk factors for congenital limb deficiencies.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 10, p. 2463, doi. 10.1002/ajmg.a.35565
- By:
- Publication type:
- Article
Why genomics shouldn't get too personal: In favor of filters.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 10, p. 2641, doi. 10.1002/ajmg.a.35547
- By:
- Publication type:
- Article
The world and medical genetics has lost a great 'man for all seasons.' Early in the morning of May 27, 2012.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 10, p. 2391, doi. 10.1002/ajmg.a.35587
- By:
- Publication type:
- Article
A novel nonsense CDK5RAP2 mutation in a Somali child with primary microcephaly and sensorineural hearing loss.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 10, p. 2577, doi. 10.1002/ajmg.a.35558
- By:
- Publication type:
- Article
Immune-mediated disorders among women carriers of fragile X premutation alleles.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 10, p. 2473, doi. 10.1002/ajmg.a.35569
- By:
- Publication type:
- Article
Trisomy 21 mosaicism and maternal age.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 10, p. 2482, doi. 10.1002/ajmg.a.35571
- By:
- Publication type:
- Article
Congenital heart disease in Cornelia de Lange syndrome: Phenotype and genotype analysis.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 10, p. 2499, doi. 10.1002/ajmg.a.35582
- By:
- Publication type:
- Article
Unanticipated results from exome sequencing/whole genome sequencing: The sky won't fall.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 10, p. 2643, doi. 10.1002/ajmg.a.35546
- By:
- Publication type:
- Article
17p13.1 microduplication in a boy with Silver-Russell syndrome features and intellectual disability.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 10, p. 2564, doi. 10.1002/ajmg.a.35553
- By:
- Publication type:
- Article
New proposed clinico-radiologic and molecular criteria in hypochondroplasia: FGFR 3 gene mutations are not the only cause of hypochondroplasia.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 10, p. 2456, doi. 10.1002/ajmg.a.35564
- By:
- Publication type:
- Article
Table of Contents, Volume 158A, Number 10, October 2012.
- Published in:
- 2012
- Publication type:
- Other
The National Children's Study. Abstracts of the National Children's Study research day 2011.
- Published in:
- 2012
- By:
- Publication type:
- Other
Constitutional NRAS mutations are rare among patients with Noonan syndrome or juvenile myelomonocytic leukemia.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 10, p. 2407, doi. 10.1002/ajmg.a.35513
- By:
- Publication type:
- Article
Familial 25.3 Mb inverted duplication of bands q32.1 to q35.1 on chromosome 4 with psychomotor impairments.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 10, p. 2624, doi. 10.1002/ajmg.a.35586
- By:
- Publication type:
- Article
Phenotypic variability of atypical 22q11.2 deletions not including TBX1.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 10, p. 2412, doi. 10.1002/ajmg.a.35517
- By:
- Publication type:
- Article
Maternal and infant gene-folate interactions and the risk of neural tube defects.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 10, p. 2439, doi. 10.1002/ajmg.a.35552
- By:
- Publication type:
- Article
Socio-economic factors affect mortality in 47,XYY syndrome-A comparison with the background population and Klinefelter syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 10, p. 2421, doi. 10.1002/ajmg.a.35539
- By:
- Publication type:
- Article
Metastatic medulloblastoma in an adolescent with Simpson-Golabi-Behmel syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 10, p. 2534, doi. 10.1002/ajmg.a.35284
- By:
- Publication type:
- Article
Microduplication of Xq24 and Hartsfield syndrome with holoprosencephaly, ectrodactyly, and clefting.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 10, p. 2537, doi. 10.1002/ajmg.a.35465
- By:
- Publication type:
- Article
Overgrowth with increased proliferation of fibroblast and matrix metalloproteinase activity related to reduced TIMP1: A newly recognized syndrome?
- Published in:
- 2012
- By:
- Publication type:
- Other
Life-history chronicle for a patient with the recently described chromosome 4q21 microdeletion syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 10, p. 2606, doi. 10.1002/ajmg.a.35568
- By:
- Publication type:
- Article
Maternal intrachromosomal insertional translocation leads to recurrent 1q21.3q23.3 deletion in two siblings.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 10, p. 2591, doi. 10.1002/ajmg.a.35563
- By:
- Publication type:
- Article
In this issue.
- Published in:
- 2012
- Publication type:
- Other
Tissue-limited ring chromosome 18 mosaicism as a cause of Pitt-Hopkins syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 10, p. 2621, doi. 10.1002/ajmg.a.35230
- By:
- Publication type:
- Article
American Journal of Medical Genetics Part A: Volume 158A, Number 10, October 2012.
- Published in:
- 2012
- Publication type:
- Other
De novo 13q12.3-q14.11 deletion involving BRCA2 gene in a patient with developmental delay, elevated IgM levels, transient ataxia, and cerebellar hypoplasia, mimicking an A-T like phenotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 10, p. 2571, doi. 10.1002/ajmg.a.35556
- By:
- Publication type:
- Article
12q14 microdeletion syndrome and short stature with or without relative macrocephaly.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 10, p. 2542, doi. 10.1002/ajmg.a.35527
- By:
- Publication type:
- Article
Wisconsin Stillbirth Service Program: Analysis of large for gestational age cases.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 10, p. 2493, doi. 10.1002/ajmg.a.35578
- By:
- Publication type:
- Article
De novo interstitial duplication of 15q11.2-q13.1 with complex maternal uniparental trisomy for the 15q11-q13 region in a patient with Prader-Willi syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 10, p. 2557, doi. 10.1002/ajmg.a.35549
- By:
- Publication type:
- Article
Non-invasive fetal genome sequencing: Opportunities and challenges.
- Published in:
- 2012
- By:
- Publication type:
- Editorial
Interstitial deletion of 11q-implicating the KIRREL3 gene in the neurocognitive delay associated with Jacobsen syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 10, p. 2551, doi. 10.1002/ajmg.a.35621
- By:
- Publication type:
- Article
Map of autosomal recessive genetic disorders in Saudi Arabia: Concepts and future directions.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 10, p. 2629, doi. 10.1002/ajmg.a.35551
- By:
- Publication type:
- Article
A novel contiguous gene deletion of AVPR2 and ARHGAP4 genes in male dizygotic twins with nephrogenic diabetes insipidus and intellectual disability.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 10, p. 2511, doi. 10.1002/ajmg.a.35591
- By:
- Publication type:
- Article
Interstitial 3p25.3-p26.1 deletion in a patient with intellectual disability.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 10, p. 2587, doi. 10.1002/ajmg.a.35562
- By:
- Publication type:
- Article
Healthcare reform law benefits children with genetic diseases.
- Published in:
- 2012
- Publication type:
- Other
Assessing pre-implantation embryo development in mice provides a rationale for understanding potential adverse effects of ART and PGD procedures.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 10, p. 2526, doi. 10.1002/ajmg.a.35573
- By:
- Publication type:
- Article
A novel mutation in the SHH long-range regulator (ZRS) is associated with preaxial polydactyly, triphalangeal thumb, and severe radial ray deficiency.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 10, p. 2610, doi. 10.1002/ajmg.a.35584
- By:
- Publication type:
- Article
Analysis of selected maternal exposures and non-syndromic atrioventricular septal defects in the National Birth Defects Prevention Study, 1997-2005.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 10, p. 2447, doi. 10.1002/ajmg.a.35555
- By:
- Publication type:
- Article
Duplication of OCRL and adjacent genes associated with autism but not Lowe syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 10, p. 2602, doi. 10.1002/ajmg.a.35566
- By:
- Publication type:
- Article
SNP array and phenotype correlation shows that FLI1 deletion per se is not responsible for thrombocytopenia development in Jacobsen syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 10, p. 2545, doi. 10.1002/ajmg.a.35537
- By:
- Publication type:
- Article
Pre- and postnatal phenotype of 6p25 deletions involving the FOXC1 gene.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 10, p. 2430, doi. 10.1002/ajmg.a.35548
- By:
- Publication type:
- Article
Microdeletion on 3p25 in a patient with features of 3p deletion syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 10, p. 2583, doi. 10.1002/ajmg.a.35559
- By:
- Publication type:
- Article