Works matching IS 15524825 AND DT 2016 AND VI 170A AND IP 3
Results: 51
Noninvasive prenatal testing spots duchenne muscular dystrophy.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 557, doi. 10.1002/ajmg.a.37591
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- Article
Neurodevelopmental and immunological features in a child presenting 22q13.2 microdeletion.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 792, doi. 10.1002/ajmg.a.37470
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Paternal uniparental disomy 11p15.5 in the pancreatic nodule of an infant with Costello syndrome: Shared mechanism for hyperinsulinemic hypoglycemia in neonates with Costello and Beckwith-Wiedemann syndrome and somatic loss of heterozygosity in Costello syndrome driving clonal expansion
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 559, doi. 10.1002/ajmg.a.37471
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- Article
5q14.3 deletion neurocutaneous syndrome: Contiguous gene syndrome caused by simultaneous deletion of RASA1 and MEF2C: A progressive disease.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 688, doi. 10.1002/ajmg.a.37472
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- Article
A new case of bent bone dysplasia-FGFR2 type and review of the literature.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 785, doi. 10.1002/ajmg.a.37473
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- Article
Hepatoblastoma in a male with MECP2 duplication syndrome.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 790, doi. 10.1002/ajmg.a.37474
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- Article
Correspondence to Vorselaars et al. thoracic aorta dilation in patients with hereditary hemorrhagic telangiectasia due to SMAD4 gene mutation.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 813, doi. 10.1002/ajmg.a.37475
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- Article
Clinical delineation of the PACS1-related syndrome-Report on 19 patients.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 670, doi. 10.1002/ajmg.a.37476
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- Article
Patients' ratings of genetic conditions validate a taxonomy to simplify decisions about preconception carrier screening via genome sequencing.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 574, doi. 10.1002/ajmg.a.37477
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Dual genetic diagnoses: Atypical hand-foot-genital syndrome and developmental delay due to de novo mutations in HOXA13 and NRXN1.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 717, doi. 10.1002/ajmg.a.37478
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- Article
KIAA2022 nonsense mutation in a symptomatic female.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 703, doi. 10.1002/ajmg.a.37479
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Table of Contents, Volume 170A, Number 3, March 2016.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 549, doi. 10.1002/ajmg.a.37306
- Publication type:
- Article
Publication schedule for 2016.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 554, doi. 10.1002/ajmg.a.37307
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- Article
Debate surrounds state laws for down syndrome fact sheets.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 555, doi. 10.1002/ajmg.a.37308
- Publication type:
- Article
Report of two novel mutations in PTHLH associated with brachydactyly type E and literature review.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 734, doi. 10.1002/ajmg.a.37490
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- Article
Microdeletions of the 7q32.2 imprinted region are associated with Silver-Russell syndrome features.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 743, doi. 10.1002/ajmg.a.37492
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- Article
Rare copy number variants implicated in posterior urethral valves.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 622, doi. 10.1002/ajmg.a.37493
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- Article
Genotype-phenotype correlation of 16p13.3 terminal duplication and 22q13.33 deletion: Natural history of a patient and review of the literature.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 766, doi. 10.1002/ajmg.a.37494
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Phenotypes of 8q13.2-q13.3 microdeletion: Case report and literature review of an emerging recurrent microdeletion syndrome.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 804, doi. 10.1002/ajmg.a.37497
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- Article
Mild humoral immunodeficiency in a patient with X-linked Kabuki syndrome.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 801, doi. 10.1002/ajmg.a.37499
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- Article
Multigenerational autosomal dominant inheritance of 5p chromosomal deletions.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 583, doi. 10.1002/ajmg.a.37445
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- Article
Axial skeletogenesis in human autosomal aneuploidies: A radiographic study of 145 second trimester fetuses.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 676, doi. 10.1002/ajmg.a.37510
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- Article
Microform holoprosencephaly with bilateral congenital elbow dislocation; increasing the phenotypic spectrum of Steinfeld syndrome.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 754, doi. 10.1002/ajmg.a.37511
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- Article
Compound heterozygous mutations in NEK8 in siblings with end-stage renal disease with hepatic and cardiac anomalies.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 750, doi. 10.1002/ajmg.a.37512
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- Article
Generating a taxonomy for genetic conditions relevant to reproductive planning.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 565, doi. 10.1002/ajmg.a.37513
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A relatively mild skeletal ciliopathy phenotype consistent with cranioectodermal dysplasia is associated with a homozygous nonsynonymous mutation in WDR35.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 760, doi. 10.1002/ajmg.a.37514
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- Article
Noninvasive prenatal testing can detect gene deletions, duplications.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 556, doi. 10.1002/ajmg.a.37581
- Publication type:
- Article
In this issue.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 558, doi. 10.1002/ajmg.a.37582
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- Article
American Journal of Medical Genetics Part A: Volume 170A, Number 3, March 2016.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. C1, doi. 10.1002/ajmg.a.37583
- Publication type:
- Article
A homozygous HOXD13 missense mutation causes a severe form of synpolydactyly with metacarpal to carpal transformation.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 615, doi. 10.1002/ajmg.a.37464
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- Article
Thoracic aorta dilation in patients with hereditary hemorrhagic telangiectasia due to SMAD4 gene mutation.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 811, doi. 10.1002/ajmg.a.37465
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- Publication type:
- Article
SOX9 p.Lys106Glu mutation causes acampomelic campomelic dysplasia: Prenatal and postnatal clinical findings.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 781, doi. 10.1002/ajmg.a.37466
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- Article
Body proportions in children with Kabuki syndrome.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 610, doi. 10.1002/ajmg.a.37467
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MRI/MRS as a surrogate marker for clinical progression in GM1 gangliosidosis.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 634, doi. 10.1002/ajmg.a.37468
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- Article
Triploidy mosaicism (45,X/68,XX) in an infant presenting with failure to thrive.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 694, doi. 10.1002/ajmg.a.37469
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Genetic characteristics, clinical spectrum, and incidence of neonatal diabetes in the Emirate of AbuDhabi, United Arab Emirates.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 602, doi. 10.1002/ajmg.a.37419
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Gershoni-Baruch syndrome: First report of a surviving child.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 707, doi. 10.1002/ajmg.a.37480
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- Article
Whole exome sequencing identified a novel COL2A1 mutation that causes mild Spondylo-epiphyseal dysplasia mimicking autosomal dominant brachyolmia.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 795, doi. 10.1002/ajmg.a.37481
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- Article
Depression and hyperactivity in two patients with craniofrontonasal syndrome.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 799, doi. 10.1002/ajmg.a.37482
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- Article
Triplication of 16p12.1p12.3 associated with developmental and growth delay and distinctive facial features.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 712, doi. 10.1002/ajmg.a.37483
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A syndrome of microcephaly, short stature, polysyndactyly, and dental anomalies caused by a homozygous KATNB1 mutation.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 728, doi. 10.1002/ajmg.a.37484
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Massive hemoptysis in Loeys-Dietz syndrome.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 725, doi. 10.1002/ajmg.a.37487
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- Article
Elevated plasma oxytocin levels in children with Prader-Willi syndrome compared with healthy unrelated siblings.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 594, doi. 10.1002/ajmg.a.37488
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Book review: Signs and symptoms of genetic conditions-A handbook.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 809, doi. 10.1002/ajmg.a.37489
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- Article
BRAT1-related disease-identification of a patient without early lethality.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 699, doi. 10.1002/ajmg.a.37434
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Conceptualizing a quality of life framework for girls with Rett syndrome using qualitative methods.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 645, doi. 10.1002/ajmg.a.37500
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Novel missense mutations in a conserved loop between ERCC6 (CSB) helicase motifs V and VI: Insights into Cockayne syndrome.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 773, doi. 10.1002/ajmg.a.37501
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Sleep disturbance in Mowat-Wilson syndrome.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 654, doi. 10.1002/ajmg.a.37502
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- Article
Sprengel anomaly in deletion 22q11.2 (DiGeorge/Velo-Cardio-Facial) syndrome.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 661, doi. 10.1002/ajmg.a.37503
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Hodgkin lymphoma in a patient with mosaic trisomy 18: First clinical observation.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 777, doi. 10.1002/ajmg.a.37504
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- Article