Found: 46
Select item for more details and to access through your institution.
Publication schedule for 2017.
- Published in:
- 2017
- Publication type:
- Other
The importance of phase analysis in multiexon copy number variation detected by aCGH in autosomal recessive disorder loci.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 9, p. 2485, doi. 10.1002/ajmg.a.38328
- By:
- Publication type:
- Article
Xq26.1-26.3 duplication including MOSPD1 and GPC3 identified in boy with short stature and double outlet right ventricle.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 9, p. 2446, doi. 10.1002/ajmg.a.38297
- By:
- Publication type:
- Article
Noonan syndrome in diverse populations.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 9, p. 2323, doi. 10.1002/ajmg.a.38362
- By:
- Publication type:
- Article
Characterization of thrombosis in patients with Proteus syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 9, p. 2359, doi. 10.1002/ajmg.a.38311
- By:
- Publication type:
- Article
Expansion of the phenotype of Kosaki overgrowth syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 9, p. 2422, doi. 10.1002/ajmg.a.38310
- By:
- Publication type:
- Article
Marfan syndrome with a homozygous FBN1 splicing mutation.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 9, p. 2435, doi. 10.1002/ajmg.a.38278
- By:
- Publication type:
- Article
Diagnosis of Xeroderma pigmentosum variant in a young patient with two novel mutations in the POLH gene.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 9, p. 2511, doi. 10.1002/ajmg.a.38340
- By:
- Publication type:
- Article
Dual molecular diagnosis contributes to atypical Prader-Willi phenotype in monozygotic twins.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 9, p. 2451, doi. 10.1002/ajmg.a.38315
- By:
- Publication type:
- Article
SERPINI1 pathogenic variants: An emerging cause of childhood-onset progressive myoclonic epilepsy.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 9, p. 2456, doi. 10.1002/ajmg.a.38317
- By:
- Publication type:
- Article
The immune deficiency of chromosome 22q11.2 deletion syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 9, p. 2366, doi. 10.1002/ajmg.a.38319
- By:
- Publication type:
- Article
Variants in KAT6A and pituitary anomalies.
- Published in:
- 2017
- By:
- Publication type:
- Other
FOXC1 haploinsufficiency due to 6p25 deletion in a patient with rapidly progressing aortic valve disease.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 9, p. 2489, doi. 10.1002/ajmg.a.38331
- By:
- Publication type:
- Article
Progressive SCAR14 with unclear speech, developmental delay, tremor, and behavioral problems caused by a homozygous deletion of the SPTBN2 pleckstrin homology domain.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 9, p. 2494, doi. 10.1002/ajmg.a.38332
- By:
- Publication type:
- Article
Next generation deep sequencing corrects diagnostic pitfalls of traditional molecular approach in a patient with prenatal onset of Pompe disease.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 9, p. 2500, doi. 10.1002/ajmg.a.38333
- By:
- Publication type:
- Article
Expanding the allelic disorders linked to TCTN1 to include Varadi syndrome (Orofaciodigital syndrome type VI).
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 9, p. 2439, doi. 10.1002/ajmg.a.38336
- By:
- Publication type:
- Article
Craniosynostosis in patients with RASopathies: Accumulating clinical evidence for expanding the phenotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 9, p. 2346, doi. 10.1002/ajmg.a.38337
- By:
- Publication type:
- Article
Demographics and co-occurring conditions in a clinic-based cohort with Down syndrome in the United Arab Emirates.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 9, p. 2395, doi. 10.1002/ajmg.a.38338
- By:
- Publication type:
- Article
Deficiency of WARS2, encoding mitochondrial tryptophanyl tRNA synthetase, causes severe infantile onset leukoencephalopathy.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 9, p. 2505, doi. 10.1002/ajmg.a.38339
- By:
- Publication type:
- Article
Cover Image, Volume 173A, Number 9, September 2017.
- Published in:
- 2017
- By:
- Publication type:
- Other
Few direct-to-consumer test users receive genetic counseling.
- Published in:
- 2017
- Publication type:
- Other
Table of Contents, Volume 173A, Number 9, September 2017.
- Published in:
- 2017
- Publication type:
- Other
Dolichol kinase deficiency (DOLK-CDG): Two new cases and expansion of phenotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 9, p. 2428, doi. 10.1002/ajmg.a.38287
- By:
- Publication type:
- Article
Infants with cystic fibrosis still lag on some growth measures.
- Published in:
- 2017
- Publication type:
- Other
Cervical artery dissection expands the cardiovascular phenotype in FBN1-related Weill-Marchesani syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 9, p. 2551, doi. 10.1002/ajmg.a.38353
- By:
- Publication type:
- Article
RNF213 variants in a child with PHACE syndrome and moyamoya vasculopathy.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 9, p. 2557, doi. 10.1002/ajmg.a.38258
- By:
- Publication type:
- Article
Growth hormone excess in children with neurofibromatosis type-1 and optic glioma.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 9, p. 2353, doi. 10.1002/ajmg.a.38308
- By:
- Publication type:
- Article
Psychiatric and cognitive characteristics of individuals with Danon disease ( LAMP2 gene mutation).
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 9, p. 2461, doi. 10.1002/ajmg.a.38320
- By:
- Publication type:
- Article
Automatic recognition of the XLHED phenotype from facial images.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 9, p. 2408, doi. 10.1002/ajmg.a.38343
- By:
- Publication type:
- Article
Agenesis of the corpus callosum, developmental delay, autism spectrum disorder, facial dysmorphism, and posterior polymorphous corneal dystrophy associated with ZEB1 gene deletion.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 9, p. 2467, doi. 10.1002/ajmg.a.38321
- By:
- Publication type:
- Article
Motor performance in children with Noonan syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 9, p. 2335, doi. 10.1002/ajmg.a.38322
- By:
- Publication type:
- Article
Development of emotional and behavioral problems in neurofibromatosis type 1 during young childhood.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 9, p. 2373, doi. 10.1002/ajmg.a.38323
- By:
- Publication type:
- Article
von Hippel-Lindau development in children and adolescents.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 9, p. 2381, doi. 10.1002/ajmg.a.38324
- By:
- Publication type:
- Article
Neural tube defects in Waardenburg syndrome: A case report and review of the literature.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 9, p. 2472, doi. 10.1002/ajmg.a.38325
- By:
- Publication type:
- Article
Drug discovery and development for rare genetic disorders.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 9, p. 2307, doi. 10.1002/ajmg.a.38326
- By:
- Publication type:
- Article
A novel microduplication of ARID1B: Clinical, genetic, and proteomic findings.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 9, p. 2478, doi. 10.1002/ajmg.a.38327
- By:
- Publication type:
- Article
Two patients with the heterozygous R189H mutation in ACTA2 and Complex congenital heart defects expands the cardiac phenotype of multisystemic smooth muscle dysfunction syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 9, p. 2566, doi. 10.1002/ajmg.a.38329
- By:
- Publication type:
- Article
Juvenile-onset generalized lipodystrophy due to a novel heterozygous missense LMNA mutation affecting lamin C.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 9, p. 2517, doi. 10.1002/ajmg.a.38341
- By:
- Publication type:
- Article
Autopsy findings in EPG5-related Vici syndrome with antenatal onset.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 9, p. 2522, doi. 10.1002/ajmg.a.38342
- By:
- Publication type:
- Article
A prenatal diagnosis of mosaic trisomy 5 reveals a postnatal complete uniparental disomy of chromosome 5 with multiple congenital anomalies.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 9, p. 2528, doi. 10.1002/ajmg.a.38344
- By:
- Publication type:
- Article
Biallelic COL3A1 mutations result in a clinical spectrum of specific structural brain anomalies and connective tissue abnormalities.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 9, p. 2534, doi. 10.1002/ajmg.a.38345
- By:
- Publication type:
- Article
Homozygous null variant in CRADD, encoding an adaptor protein that mediates apoptosis, is associated with lissencephaly.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 9, p. 2539, doi. 10.1002/ajmg.a.38347
- By:
- Publication type:
- Article
Blake's pouch cyst in 13q deletion syndrome: Posterior fossa malformations may occur due to disruption of multiple genes.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 9, p. 2442, doi. 10.1002/ajmg.a.38346
- By:
- Publication type:
- Article
Skewed X-inactivation in a family with DLG3-associated X-linked intellectual disability.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 9, p. 2545, doi. 10.1002/ajmg.a.38348
- By:
- Publication type:
- Article
MED resulting from recessively inherited mutations in the gene encoding calcium-activated nucleotidase CANT1.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 9, p. 2415, doi. 10.1002/ajmg.a.38349
- By:
- Publication type:
- Article
In this issue.
- Published in:
- 2017
- Publication type:
- Other