Works matching IS 15524825 AND DT 2015 AND VI 167A AND IP 11
Results: 70
Elucidating discrepant results in a prenatal diagnosis of 48,XXY,+18 (Edwards and Klinefelter syndromes).
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2855, doi. 10.1002/ajmg.a.37250
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- Article
Molecular studies on parents after autopsy identify recombinant GBA gene in a case of Gaucher disease with ichthyosis phenotype.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2858, doi. 10.1002/ajmg.a.37251
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- Article
Volvulus and bowel obstruction in ATR-X syndrome-clinical report and review of literature.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2777, doi. 10.1002/ajmg.a.37252
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- Article
Pseudoachondroplasia and painful sequelae.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2618, doi. 10.1002/ajmg.a.37253
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- Article
The neurobehavioral and molecular phenotype of Angelman Syndrome.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2623, doi. 10.1002/ajmg.a.37254
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- Article
Marfan syndrome patient experiences as ascertained through postings on social media sites.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2629, doi. 10.1002/ajmg.a.37255
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- Article
Experiences with obtaining informed consent for genomic sequencing.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2635, doi. 10.1002/ajmg.a.37256
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- Article
Sonic Hedgehog, VACTERL, and Fanconi anemia: Pathogenetic connections and therapeutic implications.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2594, doi. 10.1002/ajmg.a.37257
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- Article
Long QT syndrome with craniofacial, digital, and neurologic features: Is it useful to distinguish between timothy syndrome types 1 and 2?
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2780, doi. 10.1002/ajmg.a.37258
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- Article
Craniosynostosis and Noonan syndrome with KRAS mutations: Expanding the phenotype with a case report and review of the literature.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2657, doi. 10.1002/ajmg.a.37259
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- Article
American Journal of Medical Genetics Part A: Volume 167A, Number 11, November 2015.
- Published in:
- 2015
- Publication type:
- Other
Table of Contents, Volume 167A, Number 11, November 2015.
- Published in:
- 2015
- Publication type:
- Other
Aortic dimensions in Turner syndrome.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2527, doi. 10.1002/ajmg.a.37208
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- Article
A homozygous B3GAT3 mutation causes a severe syndrome with multiple fractures, expanding the phenotype of linkeropathy syndromes.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2691, doi. 10.1002/ajmg.a.37209
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- Article
Resolution of refractory hypotension and anuria in a premature newborn with loss-of-function of ACE.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2867, doi. 10.1002/ajmg.a.37270
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- Article
New insights into central nervous system involvement in FOP: Case report and review of the literature.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2817, doi. 10.1002/ajmg.a.37271
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- Article
Mutation spectrum of COL1A1 and COL1A2 genes in Indian patients with osteogenesis imperfecta.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2868, doi. 10.1002/ajmg.a.37272
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- Article
Macrothrombocytopenia and developmental delay with a de novo CDC42 mutation: Yet another locus for thrombocytopenia and developmental delay.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2822, doi. 10.1002/ajmg.a.37275
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- Article
Menkes disease with discordant phenotype in female monozygotic twins.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2826, doi. 10.1002/ajmg.a.37276
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- Article
SOX2 anophthalmia syndrome and dental anomalies.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2830, doi. 10.1002/ajmg.a.37277
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- Article
Progressive hip joint subluxation in Saul-Wilson syndrome.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2834, doi. 10.1002/ajmg.a.37278
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- Article
Mosaic partial deletion of PTPN12 in a child with interrupted aortic arch type A.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2674, doi. 10.1002/ajmg.a.37279
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- Article
Copy number variants including RAS pathway genes-How much RASopathy is in the phenotype?
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2685, doi. 10.1002/ajmg.a.37155
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- Article
Differentiating between copy-number-variation and gain-of-function mutation.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2684, doi. 10.1002/ajmg.a.37220
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- Article
Exome sequencing expands the mechanism of SOX5-associated intellectual disability: A case presentation with review of sox-related disorders.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2548, doi. 10.1002/ajmg.a.37221
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- Article
A girl with incomplete Prader-Willi syndrome and negative MS-PCR, found to have mosaic maternal UPD-15 at SNP array.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2720, doi. 10.1002/ajmg.a.37222
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- Article
Familial 7q11.23 duplication with variable phenotype.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2727, doi. 10.1002/ajmg.a.37226
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- Article
Monozygotic twins with a de novo 0.32 Mb 16q24.3 deletion, including TUBB3 presenting with developmental delay and mild facial dysmorphism but without overt brain malformation.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2731, doi. 10.1002/ajmg.a.37227
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- Article
Refinement of the postnatal growth restriction locus of chromosome 5q12-13 deletion syndrome.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2737, doi. 10.1002/ajmg.a.37228
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- Article
Trisomy 15 mosaicism: Challenges in prenatal diagnosis.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2847, doi. 10.1002/ajmg.a.37229
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- Article
Informed consent required for federally funded studies on bloodspots.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. ix, doi. 10.1002/ajmg.a.37413
- Publication type:
- Article
Research sheds light on gene expression differences in 22q11.2 deletion syndrome.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. x, doi. 10.1002/ajmg.a.37414
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- Article
In this issue.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. xii, doi. 10.1002/ajmg.a.37415
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- Article
Congenital limb deficiencies in Alberta-a review of 33 years (1980-2012) from the Alberta Congenital Anomalies Surveillance System (ACASS).
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2599, doi. 10.1002/ajmg.a.37240
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- Article
Comment: The midline.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2566, doi. 10.1002/ajmg.a.37245
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- Article
Differences in mortality and morbidity according to gestational ages and birth weights in infants with trisomy 18.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2610, doi. 10.1002/ajmg.a.37246
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- Article
Genochondromatosis type I: A clinicoradiological study of four family members.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2758, doi. 10.1002/ajmg.a.37247
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- Article
Intellectual disability, muscle weakness and characteristic face in three siblings: A newly described recessive syndrome mapping to 3p24.3-p25.3.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2508, doi. 10.1002/ajmg.a.37248
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- Article
Novel KIF7 missense substitutions in two patients presenting with multiple malformations and features of acrocallosal syndrome.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2767, doi. 10.1002/ajmg.a.37249
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- Article
Response to long-term growth hormone therapy in patients affected by RASopathies and growth hormone deficiency: Patterns of growth, puberty and final height data.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2786, doi. 10.1002/ajmg.a.37260
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- Article
Canaries in the coal mine: Personal and professional impact of undergoing whole genome sequencing on medical professionals.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2647, doi. 10.1002/ajmg.a.37262
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- Publication type:
- Article
Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel-Feil syndrome.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2795, doi. 10.1002/ajmg.a.37263
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- Publication type:
- Article
Silver-Rusell syndrome caused by epigenetic alteration in a child conceived by intrauterine insemination from donor sperm.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2861, doi. 10.1002/ajmg.a.37265
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- Publication type:
- Article
6q22.33 microdeletion in a family with intellectual disability, variable major anomalies, and behavioral abnormalities.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2800, doi. 10.1002/ajmg.a.37266
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- Article
National down syndrome patient database: Insights from the development of a multi-center registry study.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2520, doi. 10.1002/ajmg.a.37267
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- Publication type:
- Article
A novel 2q37 microdeletion containing human neural progenitors genes including STK25 results in severe developmental delay, epilepsy, and microcephaly.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2808, doi. 10.1002/ajmg.a.37268
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- Article
Recurrent deletions and duplications of chromosome 2q11.2 and 2q13 are associated with variable outcomes.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2664, doi. 10.1002/ajmg.a.37269
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- Publication type:
- Article
Familial TAB2 microdeletion and congenital heart defects including unusual valve dysplasia and tetralogy of fallot.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2702, doi. 10.1002/ajmg.a.37210
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- Article
10q26.1 Microdeletion: Redefining the critical regions for microcephaly and genital anomalies.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2707, doi. 10.1002/ajmg.a.37211
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- Article
Homozygous 16p13.11 duplication associated with mild intellectual disability and urinary tract malformations in two siblings born from consanguineous parents.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2714, doi. 10.1002/ajmg.a.37212
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- Article