Works matching IS 15524825 AND DT 2017 AND VI 173 AND IP 7
Results: 47
6q25.1 ( TAB2) microdeletion syndrome: Congenital heart defects and cardiomyopathy.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 7, p. 1848, doi. 10.1002/ajmg.a.38254
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- Article
Benchmarking outcomes in the Neonatal Intensive Care Unit: Cytogenetic and molecular diagnostic rates in a retrospective cohort.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 7, p. 1839, doi. 10.1002/ajmg.a.38250
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- Article
Acne conglobata in a long-term survivor with trisomy 13, accompanied by selective IgM deficiency.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 7, p. 1903, doi. 10.1002/ajmg.a.38251
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- Article
Diagnosis of CoPAN by whole exome sequencing: Waking up a sleeping tiger's eye.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 7, p. 1878, doi. 10.1002/ajmg.a.38252
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- Article
Clinical and molecular characterization of a second family with the 12q14 microdeletion syndrome and review of the literature.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 7, p. 1922, doi. 10.1002/ajmg.a.38253
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- Article
Expanding the phenotypic spectrum of truncating POGZ mutations: Association with CNS malformations, skeletal abnormalities, and distinctive facial dysmorphism.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 7, p. 1965, doi. 10.1002/ajmg.a.38255
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- Article
Phenotypic expression of 19q13.32 microdeletions: Report of a new patient and review of the literature.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 7, p. 1970, doi. 10.1002/ajmg.a.38256
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- Article
Mandibulofacial dysostosis Bauru type: Refining the phenotype.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 7, p. 1747, doi. 10.1002/ajmg.a.38257
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- Article
A rapid gene sequencing panel strategy to facilitate precision neonatal medicine.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 7, p. 1979, doi. 10.1002/ajmg.a.38259
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- Article
Novel features of Helsmoortel-Van der Aa/ADNP syndrome in a boy with a known pathogenic mutation in the ADNP gene detected by exome sequencing.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 7, p. 1994, doi. 10.1002/ajmg.a.38201
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- Article
Response to: Toriello et al., 'Update on the Toriello-Carey Syndrome.' Further delineation of a young woman with deletion 1q42.12-q42.2.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 7, p. 1988, doi. 10.1002/ajmg.a.38203
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- Article
Left ventricular noncompaction cardiomyopathy in a patient with trisomy 13: A report and review of the literature.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 7, p. 1947, doi. 10.1002/ajmg.a.38270
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- Article
Homozygous microdeletion of the ERI1 and MFHAS1 genes in a patient with intellectual disability, limb abnormalities, and cardiac malformation.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 7, p. 1955, doi. 10.1002/ajmg.a.38271
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- Article
Neuropsychological phenotypes of 76 individuals with Joubert syndrome evaluated at a single center.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 7, p. 1796, doi. 10.1002/ajmg.a.38272
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- Article
Artificial reproductive techniques and epigenetic alterations: Additional comments to the article by Arcos-Machancoses et al. (.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 7, p. 1983, doi. 10.1002/ajmg.a.38273
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- Article
A comparison of the functional health of children with Costello syndrome in 1999 and in 2015.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 7, p. 1792, doi. 10.1002/ajmg.a.38262
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- Article
Kaposi sarcoma, oral malformations, mitral dysplasia, and scoliosis associated with 7q34-q36.3 heterozygous terminal deletion.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 7, p. 1858, doi. 10.1002/ajmg.a.38275
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- Article
Incidence, puberty, and fertility in 45,X/47,XXX mosaicism: Report of a patient and a literature review.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 7, p. 1961, doi. 10.1002/ajmg.a.38276
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- Article
Sclerotic bone lesions in tuberous sclerosis complex: A genotype-phenotype study.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 7, p. 1891, doi. 10.1002/ajmg.a.38260
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- Article
Unclassifiable pattern of hypopigmentation in a patient with mosaic partial 12p tetrasomy without Pallister-Killian syndrome.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 7, p. 1943, doi. 10.1002/ajmg.a.38269
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Identification of a de novo variant in CHUK in a patient with an EEC/AEC syndrome-like phenotype and hypogammaglobulinemia.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 7, p. 1813, doi. 10.1002/ajmg.a.38274
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- Article
Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 7, p. 1739, doi. 10.1002/ajmg.a.38267
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- Article
Nomenclature and definition in asymmetric regional body overgrowth.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 7, p. 1735, doi. 10.1002/ajmg.a.38266
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DiGeorge-like syndrome in a child with a 3p12.3 deletion involving MIR4273 gene born to a mother with gestational diabetes mellitus.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 7, p. 1913, doi. 10.1002/ajmg.a.38242
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Endoplasmic reticulum retention of xylosyltransferase 1 (XYLT1) mutants underlying Desbuquois dysplasia type II.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 7, p. 1773, doi. 10.1002/ajmg.a.38244
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Wiedemann-Rautenstrauch syndrome: A phenotype analysis.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 7, p. 1763, doi. 10.1002/ajmg.a.38246
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- Article
Whole exome sequencing of families with 1q21.1 microdeletion or microduplication.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 7, p. 1782, doi. 10.1002/ajmg.a.38247
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Defining mandibular morphology in Robin sequence: A matched case-control study.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 7, p. 1831, doi. 10.1002/ajmg.a.38248
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Response to: Milosavljevic et al. 'Two cases of RIT1 associated Noonan syndrome: Further delineation of the clinical phenotype and review of the literature'.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 7, p. 1992, doi. 10.1002/ajmg.a.38249
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KBG syndrome: An Australian experience.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 7, p. 1866, doi. 10.1002/ajmg.a.38121
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Alterations in metabolic patterns have a key role in diagnosis and progression of primrose syndrome.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 7, p. 1896, doi. 10.1002/ajmg.a.38124
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Trisomy 18 and holoprosencephaly.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 7, p. 1985, doi. 10.1002/ajmg.a.38129
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- Article
Recurrent ATP2A2 p.(Pro602Leu) mutation differentiates Acrokeratosis verruciformis of Hopf from the allelic condition Darier disease.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 7, p. 1975, doi. 10.1002/ajmg.a.38268
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Male child with somatic mosaic Osteopathia Striata with Cranial Sclerosis caused by a novel pathogenic AMER1 frameshift mutation.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 7, p. 1931, doi. 10.1002/ajmg.a.38261
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Cover Image, Volume 173A, Number 7, July 2017.
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- 2017
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- Publication type:
- Other
Agreement reached on initially discordant genetic variant interpretations.
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- 2017
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- Other
The impact of a sibling's life-limiting genetic condition on adult brothers and sisters.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 7, p. 1754, doi. 10.1002/ajmg.a.38213
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Phosphoglycerate dehydrogenase (PHGDH) deficiency without epilepsy mimicking primary microcephaly.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 7, p. 1936, doi. 10.1002/ajmg.a.38217
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In this issue.
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- 2017
- Publication type:
- Other
Table of Contents, Volume 173A, Number 7, July 2017.
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- 2017
- Publication type:
- Other
Publication schedule for 2017.
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- 2017
- Publication type:
- Other
Proposed federal legislation could compromise genetic privacy.
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- 2017
- Publication type:
- Other
Adaptive and maladaptive functioning in Kleefstra syndrome compared to other rare genetic disorders with intellectual disabilities.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 7, p. 1821, doi. 10.1002/ajmg.a.38280
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PLXNA1 developmental encephalopathy with syndromic features: A case report and review of the literature.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 7, p. 1951, doi. 10.1002/ajmg.a.38236
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Compound heterozygous mutations in COL1A1 associated with an atypical form of type I osteogenesis imperfecta.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 7, p. 1907, doi. 10.1002/ajmg.a.38238
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Vascular twin nevi.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 7, p. 1919, doi. 10.1002/ajmg.a.38117
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A case of familial transmission of the newly described DNMT3A-Overgrowth Syndrome.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 7, p. 1887, doi. 10.1002/ajmg.a.38119
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