Works matching IS 15524825 AND DT 2014 AND VI 164A AND IP 7
Results: 49
Haploinsufficiency of MEIS2 is associated with orofacial clefting and learning disability.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1622, doi. 10.1002/ajmg.a.36498
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Evaluation of participant recruitment methods to a rare disease online registry.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1686, doi. 10.1002/ajmg.a.36530
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Mutations in NGLY1 gene linked with new genetic disorder.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. viii, doi. 10.1002/ajmg.a.36644
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- Article
Early presentation of cystic kidneys in a family with a homozygous INVS mutation.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1627, doi. 10.1002/ajmg.a.36501
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Clinical, cytogenetic, and molecular characterization of six patients with ring chromosomes 22, including one with concomitant 22q11.2 deletion.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1659, doi. 10.1002/ajmg.a.36512
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Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1713, doi. 10.1002/ajmg.a.36552
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Mother and daughter with a novel phenotype of hand and foot anomalies and severe pectus excavatum.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1867, doi. 10.1002/ajmg.a.36497
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Table of Contents, Volume 164A, Number 7, July 2014.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. fm i, doi. 10.1002/ajmg.a.36666
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- Article
Papillary thyroid cancer in a patient with interstitial 6q25 deletion including ARID1B.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1857, doi. 10.1002/ajmg.a.36515
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Further phenotype description, genotype characterization in patients with de novo interstitial deletion on 2p23.2-24.1.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1789, doi. 10.1002/ajmg.a.36516
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Academia, advocacy, and industry: A collaborative method for clinical research advancement.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1619, doi. 10.1002/ajmg.a.36509
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Screening children with neurofibromatosis type 1 for autism spectrum disorder.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1706, doi. 10.1002/ajmg.a.36549
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Clinical evidence for a mandibular to maxillary transformation in Auriculocondylar syndrome.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1850, doi. 10.1002/ajmg.a.36505
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New testing guidelines for hearing loss support next-generation sequencing.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. vii, doi. 10.1002/ajmg.a.36643
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Response to Stanich et al.: Correspondence regarding-PTEN hamartoma tumor syndromes in childhood-Description of two cases and a proposal for follow-up protocol.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1871, doi. 10.1002/ajmg.a.36527
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Axenfeld-Rieger syndrome: Further clinical and array delineation of four unrelated patients with a 4q25 microdeletion.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1695, doi. 10.1002/ajmg.a.36540
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American Journal of Medical Genetics Part A: Volume 164A, Number 7, July 2014.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. C1, doi. 10.1002/ajmg.a.36665
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- Article
Coffin-Siris syndrome: Phenotypic evolution of a novel SMARCA4 mutation.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1808, doi. 10.1002/ajmg.a.36533
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Homozygous N540K hypochondroplasia-First report: Radiological and clinical features.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1784, doi. 10.1002/ajmg.a.36504
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Novel SMAD4 mutation causing Myhre syndrome.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1835, doi. 10.1002/ajmg.a.36544
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Epidemiology of fragile X syndrome: A systematic review and meta-analysis.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1648, doi. 10.1002/ajmg.a.36511
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Rodriguez syndrome with SF3B4 mutation: A severe form of Nager syndrome?
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1841, doi. 10.1002/ajmg.a.36555
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Novel TUBB4A mutations and expansion of the neuroimaging phenotype of hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC).
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1802, doi. 10.1002/ajmg.a.36526
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FKBP14-related Ehlers-Danlos syndrome: Expansion of the phenotype to include vascular complications.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1750, doi. 10.1002/ajmg.a.36492
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A novel EBP c.224T>A mutation supports the existence of a male-specific disorder independent of CDPX2.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1642, doi. 10.1002/ajmg.a.36508
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Distal arthrogryposis type 5D with novel clinical features and compound heterozygous mutations in ECEL1.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1846, doi. 10.1002/ajmg.a.36342
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Formation of a familial ring chromosome 18 investigated by SNP-array analysis.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1854, doi. 10.1002/ajmg.a.36496
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Duplication of AKT3 is associated with macrocephaly and speech delay.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1868, doi. 10.1002/ajmg.a.36521
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Excellent outcome with de novo 15q13.3 microdeletion causing infantile spasms-A further patient.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1863, doi. 10.1002/ajmg.a.36532
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Cytogenomic and phenotypic analysis in low-level monosomy 7 mosaicism with non-supernumerary ring chromosome 7.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1765, doi. 10.1002/ajmg.a.36503
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Autosomal dominant brachyolmia in a large Swedish family: Phenotypic spectrum and natural course.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1635, doi. 10.1002/ajmg.a.36502
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The high frequency of genetic diseases in hypotonic infants referred by neuropediatrics.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1702, doi. 10.1002/ajmg.a.36543
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Barraquer-Simons syndrome: A rare clinical entity.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1756, doi. 10.1002/ajmg.a.36491
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Anterolateral diaphragmatic hernia with body wall defect understood in relation to the abaxial domain.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1860, doi. 10.1002/ajmg.a.36529
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Chromosomal-array analysis reveals partial 11q duplication and partial 12p deletion in a mildly affected case.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1770, doi. 10.1002/ajmg.a.36495
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In this issue.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. x, doi. 10.1002/ajmg.a.36645
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Autosomal recessive spastic tetraplegia caused by AP4M1 and AP4B1 gene mutation: Expansion of the facial and neuroimaging features.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1677, doi. 10.1002/ajmg.a.36514
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Haploinsufficiency of HDAC4 does not cause intellectual disability in all affected individuals.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1826, doi. 10.1002/ajmg.a.36542
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Interstitial 22q13 deletions not involving SHANK3 gene: A new contiguous gene syndrome.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1666, doi. 10.1002/ajmg.a.36513
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A patient with a unique frameshift mutation in GPC3, causing Simpson-Golabi-Behmel syndrome, presenting with craniosynostosis, penoscrotal hypospadias, and a large prostatic utricle-Am J Med Genet Part A 161A: 3121-3125.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1872, doi. 10.1002/ajmg.a.36553
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Xq28 duplication overlapping the int22h-1/int22h-2 region and including RAB39B and CLIC2 in a family with intellectual and developmental disability.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1795, doi. 10.1002/ajmg.a.36524
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De novo ANKRD11 and KDM1A gene mutations in a male with features of KBG syndrome and Kabuki syndrome.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1744, doi. 10.1002/ajmg.a.36450
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Compound heterozygous microdeletion of chromosome 15q13.3 region in a child with hypotonia, impaired vision, and global developmental delay.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1815, doi. 10.1002/ajmg.a.36535
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A novel homozygous ERCC5 truncating mutation in a family with prenatal arthrogryposis-Further evidence of genotype-phenotype correlation.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1777, doi. 10.1002/ajmg.a.36506
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Hypergonadotropic hypogonadism and hypersegmented neutrophils in a patient with ataxia-telangiectasia-like disorder: Potential diagnostic clues?
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1830, doi. 10.1002/ajmg.a.36546
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Correspondence regarding: PTEN hamartoma tumor syndromes in childhood: Description of two cases and a proposal for follow-up protocol.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1870, doi. 10.1002/ajmg.a.36528
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Amelioration of the typical cognitive phenotype in a patient with the 5pter deletion associated with Cri-du-chat syndrome in addition to a partial duplication of CTNND2.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1761, doi. 10.1002/ajmg.a.36494
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Blepharophimosis, short humeri, developmental delay and hirschsprung disease: Expanding the phenotypic spectrum of MED12 mutations.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1821, doi. 10.1002/ajmg.a.36539
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Wide spectrum of congenital anomalies including choanal atresia, malformed extremities, and brain and spinal malformations in a girl with a de novo 5.6-Mb deletion of 13q12.11-13q12.13.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1734, doi. 10.1002/ajmg.a.36391
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