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Table of Contents, Volume 164A, Number 2, Feabruary 2014.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. fm i, doi. 10.1002/ajmg.a.36473
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- Article
Late diagnosis of lateral meningocele syndrome in a 55-year-old woman with symptoms of joint instability and chronic musculoskeletal pain.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 528, doi. 10.1002/ajmg.a.36301
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- Article
Combined immunodeficiency in a 3-year-old boy with 16p11.2 and 20p12.2-11.2 chromosomal duplications.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 535, doi. 10.1002/ajmg.a.36305
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- Article
Cornelia De Lange Syndrome: Further Delineation of Phenotype, Cohesin Biology and Educational Focus, 5th Biennial Scientific and Educational Symposium Abstracts.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 1, doi. 10.1002/ajmg.a.36417
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Towards a re-thinking of the clinical significance of generalized joint hypermobility, joint hypermobiity syndrome, and Ehlers-Danlos syndrome, hypermobility type.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 1, doi. 10.1002/ajmg.a.36437
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- Article
Cardiac manifestations of Pallister-Killian syndrome.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 1, doi. 10.1002/ajmg.a.36413
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- Article
Non-overlapping 22q11.2 microdeletions in patients with oculo-auriculo-vertebral spectrum.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 551, doi. 10.1002/ajmg.a.36231
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- Article
Court ruling invalidates patent on noninvasive test for down syndrome.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. xi, doi. 10.1002/ajmg.a.36419
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- Article
Hepatoblastoma in a 15-month-old female with trisomy 13.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 472, doi. 10.1002/ajmg.a.36271
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- Article
1p34.3 deletion involving GRIK 3: Further clinical implication of GRIK family glutamate receptors in the pathogenesis of developmental delay.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 456, doi. 10.1002/ajmg.a.36240
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- Article
A case of pancreatic agenesis and congenital heart defects with a novel GATA 6 nonsense mutation: Evidence of haploinsufficiency due to nonsense-mediated mRNA decay.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 476, doi. 10.1002/ajmg.a.36275
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- Article
Changing interpretation of chromosomal microarray over time in a community cohort with intellectual disability.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 377, doi. 10.1002/ajmg.a.36279
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- Article
Medial defects of the small pulmonary arteries in fatal pulmonary hypertension in infants with trisomy 13 and trisomy 18.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 319, doi. 10.1002/ajmg.a.36282
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- Article
Haploinsufficiency of BMP 4 gene may be the underlying cause of Frías syndrome.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 338, doi. 10.1002/ajmg.a.36224
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- Article
SNX8: A candidate gene for 7p22 cardiac malformations including tetralogy of fallot.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 554, doi. 10.1002/ajmg.a.36242
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- Article
Lucky.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 305, doi. 10.1002/ajmg.a.36286
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In this issue.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. xii, doi. 10.1002/ajmg.a.36420
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- Article
Airway malacia in children with achondroplasia.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 407, doi. 10.1002/ajmg.a.36303
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- Article
Hand and fibrillin-1 deposition abnormalities in Loeys-Dietz syndrome-expanding the clinical spectrum.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 461, doi. 10.1002/ajmg.a.36246
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- Article
Congenital neutropenia with retinopathy, a new phenotype without intellectual deficiency or obesity secondary to VPS 13 B mutations.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 522, doi. 10.1002/ajmg.a.36300
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American Journal of Medical Genetics Part A: Volume 164A, Number 2, February 2014.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. C1, doi. 10.1002/ajmg.a.36472
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- Article
Four patients with Sillence type I osteogenesis imperfecta and mild bone fragility, complicated by left ventricular cardiac valvular disease and cardiac tissue fragility caused by type I collagen mutations.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 386, doi. 10.1002/ajmg.a.36285
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- Article
Mild developmental delay and obesity in two patients with mosaic 1p36 deletion syndrome.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 415, doi. 10.1002/ajmg.a.36304
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Patients and families generally welcome secondary genomic findings.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. ix, doi. 10.1002/ajmg.a.36418
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- Article
Somatic and germ-line mosaicism of deletion 15q11.2-q13 in a mother of dyzigotic twins with Angelman syndrome.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 370, doi. 10.1002/ajmg.a.36281
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- Article
Periventricular nodular heterotopia and transverse limb reduction defect in a woman with interstitial 11q24 deletion in the Jacobsen syndrome region.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 511, doi. 10.1002/ajmg.a.36292
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- Article
Hypoglycemia in Kabuki syndrome.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 467, doi. 10.1002/ajmg.a.36256
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- Article
Familial microduplication of 17q23.1-q23.2 involving TBX4 is associated with congenital clubfoot and reduced penetrance in females.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 364, doi. 10.1002/ajmg.a.36238
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- Article
Ruptured omphalocele mimicking gastroschisis in a fetus with edwards syndrome.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 559, doi. 10.1002/ajmg.a.36289
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- Article
A patient with a duplication of chromosome 3p (p24.1p26.2): A comparison with other partial 3p trisomies.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 548, doi. 10.1002/ajmg.a.36164
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- Article
Partial trisomy 1q41-qter and partial trisomy 9pter-9q21.32 in a newborn infant: An array CGH analysis and review.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 490, doi. 10.1002/ajmg.a.36278
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- Article
Orthopedics management of acromicric dysplasia: Follow up of nine patients.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 331, doi. 10.1002/ajmg.a.36139
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- Article
WNT 10 A mutations also associated with agenesis of the maxillary permanent canines, a separate entity.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 360, doi. 10.1002/ajmg.a.36280
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- Article
Newly described clinical features in two siblings with MACS syndrome and a novel mutation in RIN2.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 484, doi. 10.1002/ajmg.a.36277
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- Article
Small mosaic deletion encompassing the snoRNAs and SNURF - SNRPN results in an atypical Prader-Willi syndrome phenotype.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 425, doi. 10.1002/ajmg.a.36307
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- Article
A case of Robin sequence, microgastria, radiohumeral synostosis, femoral deficiency, and other unusual findings: A newly recognized syndrome?
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 287, doi. 10.1002/ajmg.a.36273
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- Article
Compound heterozygous deletions in pseudoautosomal region 1 in an infant with mild manifestations of langer mesomelic dysplasia.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 505, doi. 10.1002/ajmg.a.36284
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A description of spina bifida cases and co-occurring malformations, 1976-2011.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 432, doi. 10.1002/ajmg.a.36324
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- Article
Identification of novel candidate gene loci and increased sex chromosome aneuploidy among infants with conotruncal heart defects.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 397, doi. 10.1002/ajmg.a.36291
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- Article
Multiple café au lait spots in familial patients with MAP2K2 mutation.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 392, doi. 10.1002/ajmg.a.36288
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- Article
Classic phenotype of Coffin-lowry syndrome in a female with stimulus-induced drop episodes and a genotype with preserved N-terminal kinase domain.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 516, doi. 10.1002/ajmg.a.36299
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- Article
Refinement of the critical region of 1q41q42 microdeletion syndrome identifies FBXO28 as a candidate causative gene for intellectual disability and seizures.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 441, doi. 10.1002/ajmg.a.36320
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- Article
Waardenburg syndrome type 4: Report of two new cases caused by SOX 10 mutations in Spain.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 542, doi. 10.1002/ajmg.a.36302
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- Article
TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasia.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 291, doi. 10.1002/ajmg.a.36248
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- Article
The childless man.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 561, doi. 10.1002/ajmg.a.36290
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- Article
An open-label pilot study of N-acetylcysteine for skin-picking in Prader-Willi syndrome.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 421, doi. 10.1002/ajmg.a.36306
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- Article
WNT 10A mutations account for ¼ of population-based isolated oligodontia and show phenotypic correlations.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 353, doi. 10.1002/ajmg.a.36243
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- Article
Pituitary deficiency and congenital infiltrating lipomatosis of the face in a girl with deletion of chromosome 1q24.3q31.1.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 495, doi. 10.1002/ajmg.a.36283
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- Article
Potocki-shaffer deletion encompassing ALX 4 in a patient with frontonasal dysplasia phenotype.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 346, doi. 10.1002/ajmg.a.36140
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- Article
After Angelina and the Supreme Court Decision, where do we go from here? BRCA gene testing in Rhode Island's Portuguese population.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 557, doi. 10.1002/ajmg.a.36254
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- Article