Found: 51
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Identification of a syndrome comprising microcephaly and intellectual disability but not white matter disease associated with a homozygous c.676C>T p.R226W DEAF1 mutation.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1330, doi. 10.1002/ajmg.a.37580
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- Publication type:
- Article
Recurrent giant cell fibroblastoma: Malignancy predisposition in Kabuki syndrome revisited.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1333, doi. 10.1002/ajmg.a.37584
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- Publication type:
- Article
Cerebro-costo-mandibular syndrome: Clinical, radiological, and genetic findings.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1115, doi. 10.1002/ajmg.a.37587
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- Publication type:
- Article
ORPHAN-THE QUEST TO SAVE CHILDREN WITH RARE GENETIC DISORDERS.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1377, doi. 10.1002/ajmg.a.37585
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- Publication type:
- Article
Duplication 2p25 in a child with clinical features of CHARGE syndrome.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1148, doi. 10.1002/ajmg.a.37592
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- Publication type:
- Article
Two cases of Vici syndrome associated with Idiopathic Thrombocytopenic Purpura (ITP) with a review of the literature.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1343, doi. 10.1002/ajmg.a.37589
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- Publication type:
- Article
Tatton-Brown-Rahman syndrome due to 2p23 microdeletion.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1339, doi. 10.1002/ajmg.a.37588
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- Publication type:
- Article
Clairvoyance.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1242, doi. 10.1002/ajmg.a.37586
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- Publication type:
- Article
Recurrence of stillbirth and second trimester pregnancy loss.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1174, doi. 10.1002/ajmg.a.37606
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- Publication type:
- Article
Novel copy number variants and major limb reduction malformation: Report of three cases.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1245, doi. 10.1002/ajmg.a.37550
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- Publication type:
- Article
Clinical Report: Cognitive decline in a patient with Cardiofaciocutaneous syndrome.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1251, doi. 10.1002/ajmg.a.37552
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- Publication type:
- Article
A female newborn having mosaicism with near-tetraploidy and trisomy 18.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1262, doi. 10.1002/ajmg.a.37558
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- Publication type:
- Article
Interstitial 6q25 microdeletion syndrome: ARID1B is the key gene.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1257, doi. 10.1002/ajmg.a.37553
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- Publication type:
- Article
Interstitial 10p deletion derived from a maternal ins(16;10)(q22;p13p15.2): Report of the first familial case of 10p monosomy affecting to two familial members of different generations.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1268, doi. 10.1002/ajmg.a.37559
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- Article
Postnatal outcomes of prenatally diagnosed 45,X/46,XX.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1196, doi. 10.1002/ajmg.a.37551
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- Publication type:
- Article
A novel mutation p.Ser348Cys in FGFR3 causes achondroplasia.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1370, doi. 10.1002/ajmg.a.37557
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- Publication type:
- Article
Novel myopathy in a newborn with Shwachman-Diamond syndrome and review of neonatal presentation.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1155, doi. 10.1002/ajmg.a.37593
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- Publication type:
- Article
Prenatal detection of 5q14.3 duplication including MEF2C and brain phenotype.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1352, doi. 10.1002/ajmg.a.37594
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- Publication type:
- Article
Overlapping 16p13.11 deletion and gain of copies variations associated with childhood onset psychosis include genes with mechanistic implications for autism associated pathways: Two case reports.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1165, doi. 10.1002/ajmg.a.37595
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- Article
Table of Contents, Volume 170A, Number 5, May 2016.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1105, doi. 10.1002/ajmg.a.37312
- Publication type:
- Article
Publication schedule for 2016.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1110, doi. 10.1002/ajmg.a.37313
- Publication type:
- Article
Genetic discrimination lawsuit raises broader concerns about testing, privacy.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1111, doi. 10.1002/ajmg.a.37314
- Publication type:
- Article
Novel IFT122 mutations in three Argentinian patients with cranioectodermal dysplasia: Expanding the mutational spectrum.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1295, doi. 10.1002/ajmg.a.37570
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- Article
Use of metaphors about exome and whole genome sequencing.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1127, doi. 10.1002/ajmg.a.37571
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- Publication type:
- Article
Bosma arhinia microphthalmia syndrome: Clinical report and review of the literature.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1302, doi. 10.1002/ajmg.a.37572
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- Article
Enhancing genomic laboratory reports: A qualitative analysis of provider review.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1134, doi. 10.1002/ajmg.a.37573
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- Publication type:
- Article
Treatment of hypophosphatemic rickets in generalized arterial calcification of infancy (GACI) without worsening of vascular calcification.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1308, doi. 10.1002/ajmg.a.37574
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- Article
Expanding the phenotypic profile of Kleefstra syndrome: A female with low-average intelligence and childhood apraxia of speech.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1312, doi. 10.1002/ajmg.a.37575
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- Publication type:
- Article
Metatropic dysplasia is associated with increased fracture risk.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1373, doi. 10.1002/ajmg.a.37576
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- Publication type:
- Article
Clinical and pathologic features of Aicardi-Goutières syndrome due to an IFIH1 mutation: A pediatric case report.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1317, doi. 10.1002/ajmg.a.37577
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- Article
ADAT3-related intellectual disability: Further delineation of the phenotype.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1142, doi. 10.1002/ajmg.a.37578
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- Publication type:
- Article
Novel 14q11.2 microduplication including the CHD8 and SUPT16H genes associated with developmental delay.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1325, doi. 10.1002/ajmg.a.37579
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- Article
Monkey model of MECP2 duplication syndrome aids autism research.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1112, doi. 10.1002/ajmg.a.37646
- Publication type:
- Article
In this issue.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1114, doi. 10.1002/ajmg.a.37647
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- Article
Erratum to Coffin-Siris Syndrome and related disorders involving components of the BAF (mSWI/SNF) complex: Historical review and recent advances using next generation sequencing-Am J Med Genet Part C 166C: 241-251.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1379, doi. 10.1002/ajmg.c.31443
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- Article
A new case of malonyl-CoA decarboxylase deficiency with mild clinical features.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1347, doi. 10.1002/ajmg.a.37590
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- Article
The first de novo non-mosaic 14q11.2q13.1 tetrasomy of paternal origin.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1283, doi. 10.1002/ajmg.a.37565
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- Publication type:
- Article
TPM1 polymorphisms and nonsyndromic orofacial clefts susceptibility in a Chinese Han population.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1208, doi. 10.1002/ajmg.a.37561
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- Publication type:
- Article
Protein-energy malnutrition is frequent and precocious in children with cri du chat syndrome.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1358, doi. 10.1002/ajmg.a.37597
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- Article
Cover Image, Volume 170A, Number 5, May 2016.
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- 2016
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- Publication type:
- Other
Decline of CSF orexin (hypocretin) levels in Prader-Willi syndrome.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1181, doi. 10.1002/ajmg.a.37542
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- Publication type:
- Article
Femoral facial syndrome associated with a de novo complex chromosome 2q37 rearrangement.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1202, doi. 10.1002/ajmg.a.37560
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- Publication type:
- Article
Renal involvement in patients with mucolipidosis IIIalpha/beta: Causal relation or co-occurrence?
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1187, doi. 10.1002/ajmg.a.37543
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- Publication type:
- Article
Pseudodiastrophic dysplasia: Two cases delineating and expanding the pre and postnatal phenotype.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1363, doi. 10.1002/ajmg.a.37548
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- Article
Confirming the candidacy of THOC6 in the etiology of intellectual disability.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1367, doi. 10.1002/ajmg.a.37549
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- Publication type:
- Article
Clinical and laboratory outcomes after umbilical cord blood transplantation in a patient with mucolipidosis II alpha/beta.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1278, doi. 10.1002/ajmg.a.37563
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- Publication type:
- Article
EZH2 mutation in an adolescent with Weaver syndrome developing acute myeloid leukemia and secondary hemophagocytic lymphohistiocytosis.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1274, doi. 10.1002/ajmg.a.37562
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- Publication type:
- Article
A de novo frameshift mutation in chromodomain helicase DNA-binding domain 8 (CHD8): A case report and literature review.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1225, doi. 10.1002/ajmg.a.37566
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- Article
Exploring the genetic basis of 3MC syndrome: Findings in 12 further families.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1216, doi. 10.1002/ajmg.a.37564
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- Article
Crisponi/CISS1 syndrome: A case series.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1236, doi. 10.1002/ajmg.a.37569
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- Article