Works matching IS 15524825 AND DT 2018 AND VI 176 AND IP 2
Results: 42
In this issue.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 266, doi. 10.1002/ajmg.a.38609
- Publication type:
- Article
Reanalysis of clinical whole‐exome sequence data yields multiple new diagnoses.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 264, doi. 10.1002/ajmg.a.38608
- Publication type:
- Article
Cover Image, Volume 176A, Number 2, February 2018.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. i, doi. 10.1002/ajmg.a.38607
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- Article
Allometric considerations when assessing aortic aneurysms in Turner syndrome: Implications for activity recommendations and medical decision‐making.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 277, doi. 10.1002/ajmg.a.38584
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- Article
Patient perspectives on the use of categories of conditions for decision making about genomic carrier screening results.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 376, doi. 10.1002/ajmg.a.38583
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- Article
Prader–Willi syndrome and early‐onset morbid obesity NIH rare disease consortium: A review of natural history study.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 368, doi. 10.1002/ajmg.a.38582
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- Article
The expanding phenotype of <italic>RNU4ATAC</italic> pathogenic variants to Lowry Wood syndrome.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 465, doi. 10.1002/ajmg.a.38581
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- Article
Thoracic aortic aneurysm in patients with loss of function <italic>Filamin A</italic> mutations: Clinical characterization, genetics, and recommendations.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 337, doi. 10.1002/ajmg.a.38580
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- Publication type:
- Article
VACTERL phenotype with mosaic trisomy 5 and uniparental disomy 5.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 502, doi. 10.1002/ajmg.a.38579
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- Publication type:
- Article
Manifestation of recessive combined D‐2‐, L‐2‐hydroxyglutaric aciduria in combination with 22q11.2 deletion syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 351, doi. 10.1002/ajmg.a.38578
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- Publication type:
- Article
Arthrogryposis and pterygia as lethal end manifestations of genetically defined congenital myopathies.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 359, doi. 10.1002/ajmg.a.38577
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- Publication type:
- Article
Autopsy findings in EPG5‐related Vici syndrome with antenatal onset: Additional report of Focal cortical microdysgenesis in a second trimester fetus.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 499, doi. 10.1002/ajmg.a.38575
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- Publication type:
- Article
A novel homozygous <italic>SLC25A1</italic> mutation with impaired mitochondrial complex V: Possible phenotypic expansion.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 330, doi. 10.1002/ajmg.a.38574
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- Publication type:
- Article
Genetic diagnosis of Down syndrome in an underserved community.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 483, doi. 10.1002/ajmg.a.38573
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- Article
“Lowe syndrome: A particularly severe phenotype without clinical kidney involvement”.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 460, doi. 10.1002/ajmg.a.38572
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- Publication type:
- Article
A novel truncating variant within exon 7 of <italic>KAT6B</italic> associated with features of both Say–Barber–Bieseker–Young–Simpson syndrome and genitopatellar syndrome: Further evidence of a continuum in the clinical spectrum of <italic>KAT6B</italic>‐related disorders
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 455, doi. 10.1002/ajmg.a.38571
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- Publication type:
- Article
Severe rhizomelic shortening in a child with a complex duplication/deletion rearrangement of chromosome X.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 450, doi. 10.1002/ajmg.a.38570
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- Publication type:
- Article
The novel <italic>RAF1</italic> mutation p.(Gly361Ala) located outside the kinase domain of the CR3 region in two patients with Noonan syndrome, including one with a rare brain tumor.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 470, doi. 10.1002/ajmg.a.38569
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- Publication type:
- Article
Elsahy–Waters syndrome is caused by biallelic mutations in <italic>CDH11</italic>.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 477, doi. 10.1002/ajmg.a.38568
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- Article
Associations between laterality of orofacial clefts and medical and academic outcomes.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 267, doi. 10.1002/ajmg.a.38567
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- Publication type:
- Article
Small supernumerary marker chromosome 15 and a ring chromosome 15 associated with a 15q26.3 deletion excluding the <italic>IGF1R</italic> gene.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 443, doi. 10.1002/ajmg.a.38566
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- Publication type:
- Article
Incomplete penetrance, variable expressivity, or dosage insensitivity in four families with directly transmitted unbalanced chromosome abnormalities.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 319, doi. 10.1002/ajmg.a.38564
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- Publication type:
- Article
Spontaneously regressing brain lesions in Smith–Lemli–Opitz syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 386, doi. 10.1002/ajmg.a.38563
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- Publication type:
- Article
Expanding the phenotype associated with biallelic <italic>WDR60</italic> mutations: Siblings with retinal degeneration and polydactyly lacking other features of short rib thoracic dystrophies.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 438, doi. 10.1002/ajmg.a.38562
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- Publication type:
- Article
Clinical and genetic characterization of <italic>AP4B1</italic>‐associated SPG47.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 311, doi. 10.1002/ajmg.a.38561
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A child with Myhre syndrome presenting with corectopia and tetralogy of Fallot.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 426, doi. 10.1002/ajmg.a.38560
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Clinical and molecular characterization of an emerging chromosome 22q13.31 microdeletion syndrome.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 391, doi. 10.1002/ajmg.a.38559
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Novel compound heterozygous mutations in <italic>GPT2</italic> linked to microcephaly, and intellectual developmental disability with or without spastic paraplegia.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 421, doi. 10.1002/ajmg.a.38558
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- Article
A novel <italic>SAMD9</italic> mutation causing MIRAGE syndrome: An expansion and review of phenotype, dysmorphology, and natural history.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 415, doi. 10.1002/ajmg.a.38557
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- Publication type:
- Article
Spontaneous intramural duodenal hematoma as the manifestation of Noonan syndrome.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 496, doi. 10.1002/ajmg.a.38556
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- Article
Oligonephronia and Wolf‐Hirschhorn syndrome: A further observation.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 409, doi. 10.1002/ajmg.a.38554
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Mixoploidy combined with aneuploidy in a 13 year‐old patient with severe multiple congenital abnormalities and intellectual disability.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 492, doi. 10.1002/ajmg.a.38553
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- Publication type:
- Article
Biallelic mutations in <italic>LARS2</italic> can cause Perrault syndrome type 2 with neurologic symptoms.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 404, doi. 10.1002/ajmg.a.38552
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- Publication type:
- Article
Intrafamilial variability in the clinical manifestations of mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS).
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 301, doi. 10.1002/ajmg.a.38551
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- Publication type:
- Article
Biallelic mutations in <italic>NALCN</italic>: Expanding the genotypic and phenotypic spectra of IHPRF1.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 431, doi. 10.1002/ajmg.a.38543
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- Publication type:
- Article
Single suture craniosynostosis: Identification of rare variants in genes associated with syndromic forms.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 290, doi. 10.1002/ajmg.a.38540
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- Publication type:
- Article
Cognitive and behavioral phenotype of children with pseudohypoparathyroidism type 1A.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 283, doi. 10.1002/ajmg.a.38534
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- Publication type:
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Less common underlying genetic diagnoses found in a cohort of 139 individuals surgically corrected for craniosynostosis.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 487, doi. 10.1002/ajmg.a.38532
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- Publication type:
- Article
Riboflavin transporter deficiency mimicking mitochondrial myopathy caused by complex II deficiency.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 399, doi. 10.1002/ajmg.a.38530
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- Publication type:
- Article
GTEx project maps wide range of normal human genetic variation.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 263, doi. 10.1002/ajmg.a.38426
- Publication type:
- Article
Publication schedule for 2018.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 262, doi. 10.1002/ajmg.a.38425
- Publication type:
- Article
Table of Contents, Volume 176A, Number 2, February 2018.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 257, doi. 10.1002/ajmg.a.38424
- Publication type:
- Article