Works matching IS 15524825 AND DT 2015 AND VI 167A AND IP 7
Results: 46
Respectful communication by geneticists important for parents of children with undiagnosed disorders.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. viii, doi. 10.1002/ajmg.a.37196
- Publication type:
- Article
Marfan syndrome database information unreliable for diagnoses.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. vii, doi. 10.1002/ajmg.a.37195
- Publication type:
- Article
In this issue.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. x, doi. 10.1002/ajmg.a.37197
- Publication type:
- Article
A germline MTOR mutation in Aboriginal Australian siblings with intellectual disability, dysmorphism, macrocephaly, and small thoraces.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1659, doi. 10.1002/ajmg.a.37070
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- Publication type:
- Article
Children with 7q11.23 duplication syndrome: Psychological characteristics.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1436, doi. 10.1002/ajmg.a.37071
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- Publication type:
- Article
Duplication of SOX3 (Xq27) may be a risk factor for Neural Tube Defects.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1676, doi. 10.1002/ajmg.a.37072
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- Publication type:
- Article
Spondyloepiphyseal dysplasia congenita caused by double heterozygous mutations in COL2A1.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1578, doi. 10.1002/ajmg.a.37073
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- Publication type:
- Article
Mosaic tetrasomy 20p associated with osteoporosis and recurrent fractures.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1582, doi. 10.1002/ajmg.a.37074
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- Publication type:
- Article
Speech and language in a genotyped cohort of individuals with Kabuki syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1483, doi. 10.1002/ajmg.a.37026
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- Publication type:
- Article
Two novel homozygous missense mutations in the GDF5 gene cause brachydactyly type C.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1621, doi. 10.1002/ajmg.a.37040
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- Publication type:
- Article
Borderline cognitive level in a family with Bazex-Dupré-Christol syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1637, doi. 10.1002/ajmg.a.37041
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- Publication type:
- Article
A national survey of Rett syndrome: Age, clinical characteristics, current abilities, and health.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1493, doi. 10.1002/ajmg.a.37027
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- Publication type:
- Article
Clinical spectrum of eye malformations in four patients with Mowat-Wilson syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1587, doi. 10.1002/ajmg.a.36898
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- Publication type:
- Article
Response to Phelan K. et al.: Letter to the Editor Regarding Disciglio et al: Interstitial 22q13 deletions not involving SHANK3 gene: A new contiguous gene syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1681, doi. 10.1002/ajmg.a.36894
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- Publication type:
- Article
De novo SHANK3 mutation causes Rett syndrome-like phenotype in a female patient.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1593, doi. 10.1002/ajmg.a.36775
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- Publication type:
- Article
Community dissemination and genetic research: Moving beyond results reporting.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1542, doi. 10.1002/ajmg.a.37028
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- Publication type:
- Article
Mutations in LONP1, a mitochondrial matrix protease, cause CODAS syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1501, doi. 10.1002/ajmg.a.37029
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- Publication type:
- Article
Ketotifen suppression of NF1 neurofibroma growth over 30 years.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1570, doi. 10.1002/ajmg.a.37045
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- Publication type:
- Article
Pure duplication of 19p13.3 in three members of a family with intellectual disability and literature review. Definition of a new microduplication syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1614, doi. 10.1002/ajmg.a.37046
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- Publication type:
- Article
Oculoectodermal syndrome is a mosaic RASopathy associated with KRAS alterations.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1429, doi. 10.1002/ajmg.a.37048
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- Publication type:
- Article
'CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases' American Journal of Medical Genetics Part A. 164:2557-2566, 2014.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1682, doi. 10.1002/ajmg.a.36860
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- Publication type:
- Article
The unprecedented recurrent diploid/tetraploid mosaicism of trisomy-18 (mixoploidy; 4n+18/2n+18): Clinical report.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1650, doi. 10.1002/ajmg.a.37062
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- Publication type:
- Article
Molecular cytogenetic characterization of a 2q35-q37 duplication and a 4q35.1-q35.2 deletion in two cousins: A genotype-phenotype analysis.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1551, doi. 10.1002/ajmg.a.37063
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- Publication type:
- Article
An increased prevalence of thyroid disease in children with 22q11.2 deletion syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1560, doi. 10.1002/ajmg.a.37064
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- Publication type:
- Article
Facing up to the challenges of advancing Craniofacial Research.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1451, doi. 10.1002/ajmg.a.37065
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- Publication type:
- Article
An atypical 0.73 MB microduplication of 22q11.21 and a novel SALL4 missense mutation associated with thumb agenesis and radioulnar synostosis.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1644, doi. 10.1002/ajmg.a.37066
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- Publication type:
- 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. 7, p. 1654, doi. 10.1002/ajmg.a.37067
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- Publication type:
- Article
CNKSR2 deletions: A novel cause of X-linked intellectual disability and seizures.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1668, doi. 10.1002/ajmg.a.36902
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- Publication type:
- Article
Characterization of facial phenotypes of children with congenital hypopituitarism and their parents: A matched case-control study.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1525, doi. 10.1002/ajmg.a.37069
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- Article
The society for craniofacial genetics and developmental biology 37th annual meeting.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1455, doi. 10.1002/ajmg.a.37012
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- Publication type:
- Article
Thiamine responsive megaloblastic anemia syndrome: A novel homozygous SLC19A2 gene mutation identified.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1605, doi. 10.1002/ajmg.a.37015
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- Publication type:
- Article
Maternal factors associated with the occurrence of gastroschisis.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1534, doi. 10.1002/ajmg.a.37016
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- Publication type:
- Article
Quantitative associations of scalp and body subcutaneous neurofibromas with internal plexiform tumors in neurofibromatosis 1.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1518, doi. 10.1002/ajmg.a.37068
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- Publication type:
- Article
Partial trisomy 21: A fifty-year follow-up visit.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1610, doi. 10.1002/ajmg.a.37031
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- Publication type:
- Article
Letter to the editor regarding Disciglio et al.: Interstitial 22q13 deletions not involving SHANK3 gene: A new contiguous gene syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1679, doi. 10.1002/ajmg.a.36788
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- Publication type:
- Article
Tetrasomy 18p: Report of cognitive and behavioral characteristics.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1474, doi. 10.1002/ajmg.a.37036
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- Publication type:
- Article
Neurocognitive profile of a young adolescent with DK phocomelia/von Voss phocomelia/von Voss Cherstvoy syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1632, doi. 10.1002/ajmg.a.37039
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- Publication type:
- Article
American Journal of Medical Genetics Part A: Volume 167A, Number 7, July 2015.
- Published in:
- 2015
- Publication type:
- Other
Table of Contents, Volume 167A, Number 7, July 2015.
- Published in:
- 2015
- Publication type:
- Other
Pericardial effusion associated with hypothyroidism in an adult female with down syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1674, doi. 10.1002/ajmg.a.37032
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- Publication type:
- Article
Severe osteogenesis imperfecta caused by double glycine substitutions near the amino-terminal triple helical region in COL1A2.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1627, doi. 10.1002/ajmg.a.37051
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- Publication type:
- Article
An additional clinical sign of 17q21.31 microdeletion syndrome: Preaxial polydactyly of hands with broad thumbs.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1671, doi. 10.1002/ajmg.a.37054
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- Publication type:
- Article
Polymorphisms in folate pathway genes are not associated with somatic nondisjunction in turner syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1510, doi. 10.1002/ajmg.a.37055
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- Publication type:
- Article
Mild Angelman syndrome phenotype due to a mosaic methylation imprinting defect.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1565, doi. 10.1002/ajmg.a.37058
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- Publication type:
- Article
Re-evaluation casts doubt on the pathogenicity of homozygous USH2A p.C759F.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1597, doi. 10.1002/ajmg.a.37003
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- Publication type:
- Article
Somatic mosaicism of a novel IKBKG mutation in a male patient with incontinentia pigmenti.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1601, doi. 10.1002/ajmg.a.37004
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- Publication type:
- Article