Works matching IS 15524825 AND DT 2012 AND VI 158A AND IP 8
Results: 47
American Journal of Medical Genetics Part A: Volume 158A, Number 8, August 2012.
- Published in:
- 2012
- Publication type:
- Other
Identification of a prenatal profile of Cornelia de Lange syndrome (CdLS): A review of 53 CdLS pregnancies.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 8, p. 1848, doi. 10.1002/ajmg.a.35410
- By:
- Publication type:
- Article
Screening for MYO15A gene mutations in autosomal recessive nonsyndromic, GJB2 negative Iranian deaf population.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 8, p. 1857, doi. 10.1002/ajmg.a.34411
- By:
- Publication type:
- Article
Laryngeal malformation in Richieri-Costa Pereira syndrome: New findings.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 8, p. 1967, doi. 10.1002/ajmg.a.35421
- By:
- Publication type:
- Article
Too many children with autism miss genetics evaluations.
- Published in:
- 2012
- Publication type:
- Other
DPAGT1-CDG: Report of a patient with fetal hypokinesia phenotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 8, p. 2027, doi. 10.1002/ajmg.a.35472
- By:
- Publication type:
- Article
Management of pain and fatigue in the joint hypermobility syndrome (a.k.a. Ehlers-Danlos syndrome, hypermobility type): Principles and proposal for a multidisciplinary approach.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 8, p. 2055, doi. 10.1002/ajmg.a.35483
- By:
- Publication type:
- Article
A novel de novo missense mutation in TP63 underlying germline mosaicism in AEC syndrome: Implications for recurrence risk and prenatal diagnosis.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 8, p. 1957, doi. 10.1002/ajmg.a.35414
- By:
- Publication type:
- Article
Analysis of MLL2 gene in the first Brazilian family with Kabuki syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 8, p. 2003, doi. 10.1002/ajmg.a.35454
- By:
- Publication type:
- Article
Specific association of missense mutations in CRELD1 with cardiac atrioventricular septal defects in heterotaxy syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 8, p. 2047, doi. 10.1002/ajmg.a.35457
- By:
- Publication type:
- Article
Factors associated with perceived uncertainty among parents of children with undiagnosed medical conditions.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 8, p. 1877, doi. 10.1002/ajmg.a.35425
- By:
- Publication type:
- Article
Hereditary hemorrhagic telangiectasia and risks for adverse pregnancy outcomes.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 8, p. 2009, doi. 10.1002/ajmg.a.35458
- By:
- Publication type:
- Article
Norrie disease: Extraocular clinical manifestations in 56 patients.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 8, p. 1909, doi. 10.1002/ajmg.a.35469
- By:
- Publication type:
- Article
A child with an inherited 0.31 Mb microdeletion of chromosome 14q32.33: Further delineation of a critical region for the 14q32 deletion syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 8, p. 1962, doi. 10.1002/ajmg.a.35289
- By:
- Publication type:
- Article
A new syndrome of microtia with unilateral renal agenesis and short stature.
- Published in:
- 2012
- By:
- Publication type:
- Other
Middle and inner ear malformations in mutation-proven branchio-oculo-facial (BOF) syndrome: Case series and review of the literature.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 8, p. 1977, doi. 10.1002/ajmg.a.35436
- By:
- Publication type:
- Article
Microduplication of 3p25.2 encompassing RAF1 associated with congenital heart disease suggestive of Noonan syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 8, p. 1918, doi. 10.1002/ajmg.a.35471
- By:
- Publication type:
- Article
Congenital corneal staphyloma as a complication of Kabuki syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 8, p. 2000, doi. 10.1002/ajmg.a.35453
- By:
- Publication type:
- Article
Haploinsufficiency of elastin gene may lead to familial cardiopathy and pulmonary emphysema.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 8, p. 2053, doi. 10.1002/ajmg.a.35464
- By:
- Publication type:
- Article
Investigation of autistic features among individuals with mild to moderate Cornelia de Lange syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 8, p. 1841, doi. 10.1002/ajmg.a.34014
- By:
- Publication type:
- Article
Immunodeficiency, centromeric instability, facial anomalies (ICF) syndrome, due to ZBTB24 mutations, presenting with large cerebral cyst.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 8, p. 2043, doi. 10.1002/ajmg.a.35486
- By:
- Publication type:
- Article
Narrative medicine in clinical genetics practice.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 8, p. 1941, doi. 10.1002/ajmg.a.35482
- By:
- Publication type:
- Article
Tetrasomy 15q25.2 → qter identified with SNP microarray in a patient with multiple anomalies including complex cardiovascular malformation.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 8, p. 1971, doi. 10.1002/ajmg.a.35428
- By:
- Publication type:
- Article
Clinical phenotype and candidate genes for the 5q31.3 microdeletion syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 8, p. 1891, doi. 10.1002/ajmg.a.35439
- By:
- Publication type:
- Article
Platyspondylic lethal dysplasia torrance type with a heterozygous mutation in the triple helical domain of COL2A1 in two sibs from phenotypically normal parents.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 8, p. 1953, doi. 10.1002/ajmg.a.35509
- By:
- Publication type:
- Article
Wheat flour fortification with folic acid: Changes in neural tube defects rates in Chile.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 8, p. 1885, doi. 10.1002/ajmg.a.35430
- By:
- Publication type:
- Article
Lung function, diagnosis, and treatment of sleep-disordered breathing in children with achondroplasia.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 8, p. 1987, doi. 10.1002/ajmg.a.35441
- By:
- Publication type:
- Article
Dose dependent expression of HDAC4 causes variable expressivity in a novel inherited case of brachydactyly mental retardation syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 8, p. 2015, doi. 10.1002/ajmg.a.35463
- By:
- Publication type:
- Article
In this issue.
- Published in:
- 2012
- Publication type:
- Other
Microdeletion in distal 17p13.1: A recognizable phenotype with microcephaly, distinctive facial features, and intellectual disability.
- Published in:
- 2012
- By:
- Publication type:
- Other
A newly recognized syndrome with characteristic facial features, skeletal dysplasia, and developmental delay.
- Published in:
- 2012
- By:
- Publication type:
- Other
Cognition in nephropathic cystinosis: Pattern of expression in heterozygous carriers.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 8, p. 1902, doi. 10.1002/ajmg.a.35467
- By:
- Publication type:
- Article
More states screen for severe combined immunodeficiency.
- Published in:
- 2012
- Publication type:
- Other
Antiepileptic drugs and pregnancy outcomes.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 8, p. 2071, doi. 10.1002/ajmg.a.35438
- By:
- Publication type:
- Article
Table of Contents, Volume 158A, Number 8, August 2012.
- Published in:
- 2012
- Publication type:
- Other
First case of a Japanese girl with Myhre syndrome due to a heterozygous SMAD4 mutation.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 8, p. 1982, doi. 10.1002/ajmg.a.35440
- By:
- Publication type:
- Article
Profound microcephaly, primordial dwarfism with developmental brain malformations: A new syndrome.
- Published in:
- 2012
- By:
- Publication type:
- Other
Is monosomy 21 rare? Seven early miscarriages including one mosaic 45,XX,-21/44,X,-21 in a single study population.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 8, p. 2050, doi. 10.1002/ajmg.a.35462
- By:
- Publication type:
- Article
A family with radio-ulnar synostosis, scoliosis, and thick vermilion of lips: A novel syndrome or variant of Giuffrè-Tsukahara syndrome?
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 8, p. 2036, doi. 10.1002/ajmg.a.35478
- By:
- Publication type:
- Article
A novel ZRS mutation in a Balochi tribal family with triphalangeal thumb, pre-axial polydactyly, post-axial polydactyly, and syndactyly.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 8, p. 2031, doi. 10.1002/ajmg.a.35473
- By:
- Publication type:
- Article
Acro-cardio-facial syndrome: A microdeletion syndrome?
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 8, p. 1994, doi. 10.1002/ajmg.a.35444
- By:
- Publication type:
- Article
Antibody deficiency in adults with 22q11.2 deletion syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 8, p. 1934, doi. 10.1002/ajmg.a.35484
- By:
- Publication type:
- Article
Spondyloperipheral dysplasia as the mosaic form of platyspondylic lethal skeletal dyplasia torrance type in mother and fetus with the same COL2A1 mutation.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 8, p. 1948, doi. 10.1002/ajmg.a.35301
- By:
- Publication type:
- Article
The Coffin-Siris syndrome: A proposed diagnostic approach and assessment of 15 overlapping cases.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 8, p. 1865, doi. 10.1002/ajmg.a.35415
- By:
- Publication type:
- Article
Genetic studies in congenital anterior midline cervical cleft.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 8, p. 2021, doi. 10.1002/ajmg.a.35466
- By:
- Publication type:
- Article
Microarray comparative genomic hybridization and cytogenetic characterization of tissue-specific mosaicism in three patients.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 8, p. 1924, doi. 10.1002/ajmg.a.35477
- By:
- Publication type:
- Article
Filamin A mutation associated with normal reading skills and dyslexia in a family with periventricular heterotopia.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 8, p. 1897, doi. 10.1002/ajmg.a.35455
- By:
- Publication type:
- Article