Works matching IS 15524825 AND DT 2013 AND VI 161A AND IP 2
Results: 32
Neurofibromatosis type 1 and pregnancy: Maternal complications and attitudes about prenatal diagnosis.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 2, p. 386, doi. 10.1002/ajmg.a.35720
- By:
- Publication type:
- Article
Experimental therapy for neurofibromatosis I shows promise.
- Published in:
- 2013
- Publication type:
- Other
NR2F1 haploinsufficiency is associated with optic atrophy, dysmorphism and global developmental delay.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 2, p. 377, doi. 10.1002/ajmg.a.35650
- By:
- Publication type:
- Article
Wide clinical variability in conditions with coarse facial features and hypertrichosis caused by mutations in ABCC9.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 2, p. 295, doi. 10.1002/ajmg.a.35735
- By:
- Publication type:
- Article
Complex craniosynostosis is associated with the 2p15p16.1 microdeletion syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 2, p. 244, doi. 10.1002/ajmg.a.35632
- By:
- Publication type:
- Article
Corrigendum to: 'Myopathy in a 20-Year-Old Female Patient With D4ST-1 Deficient Ehlers-Danlos Syndrome Due to a Homozygous CHST14 Mutation, Am J Med Genet A. 2012 Apr; 158A(4):850-855'.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 2, p. 403, doi. 10.1002/ajmg.a.35746
- By:
- Publication type:
- Article
Diagnostic outcomes of 27 children referred by pediatricians to a genetics clinic in the Netherlands with suspicion of fetal alcohol spectrum disorders.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 2, p. 254, doi. 10.1002/ajmg.a.35672
- By:
- Publication type:
- Article
Epilepsy in Mowat-Wilson syndrome: Delineation of the electroclinical phenotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 2, p. 273, doi. 10.1002/ajmg.a.35717
- By:
- Publication type:
- Article
A new NF1 variant in a patient with atypical manifestations.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 2, p. 389, doi. 10.1002/ajmg.a.35728
- By:
- Publication type:
- Article
Table of Contents, Volume 161A, Number 2, February 2013.
- Published in:
- 2013
- Publication type:
- Other
Expanding the phenotype associated with 17q12 duplication: Case report and review of the literature.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 2, p. 352, doi. 10.1002/ajmg.a.35730
- By:
- Publication type:
- Article
Might diet play a role in autism?
- Published in:
- 2013
- Publication type:
- Other
Striking intrafamilial phenotypic variability in Aicardi-Goutières syndrome associated with the recurrent Asian founder mutation in RNASEH2C.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 2, p. 338, doi. 10.1002/ajmg.a.35712
- By:
- Publication type:
- Article
Maternal attitudes to newborn screening for fragile X syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 2, p. 301, doi. 10.1002/ajmg.a.35752
- By:
- Publication type:
- Article
Pure de novo partial trisomy 6p in a girl with craniosynostosis.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 2, p. 343, doi. 10.1002/ajmg.a.35727
- By:
- Publication type:
- Article
Timing of diagnosis of 47,XXY and 48,XXYY: A survey of parent experiences.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 2, p. 268, doi. 10.1002/ajmg.a.35709
- By:
- Publication type:
- Article
Response to the letter 'How to describe the clinical spectrum in Pompe disease?'.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 2, p. 401, doi. 10.1002/ajmg.a.35668
- By:
- Publication type:
- Article
American Journal of Medical Genetics Part A: Volume 161A, Number 2, February 2013.
- Published in:
- 2013
- Publication type:
- Other
A family with a complex clinical presentation characterized by arrhythmogenic right ventricular dysplasia/cardiomyopathy and features of branchio-oculo-facial syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 2, p. 371, doi. 10.1002/ajmg.a.35733
- By:
- Publication type:
- Article
Developmental outcome in Pierre Robin sequence: A longitudinal and prospective study of a consecutive series of severe phenotypes.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 2, p. 312, doi. 10.1002/ajmg.a.35773
- By:
- Publication type:
- Article
Jacobsen and Beckwith-Wiedemann syndromes in a child with mosaicism for partial 11pter trisomy and partial 11qter monosomy.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 2, p. 331, doi. 10.1002/ajmg.a.35708
- By:
- Publication type:
- Article
Germline mutations in FGF receptors and medulloblastomas.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 2, p. 382, doi. 10.1002/ajmg.a.35719
- By:
- Publication type:
- Article
Height correlations between parents and offspring in achondroplasia population.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 2, p. 396, doi. 10.1002/ajmg.a.35721
- By:
- Publication type:
- Article
Singleton-Merten syndrome: An autosomal dominant disorder with variable expression.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 2, p. 360, doi. 10.1002/ajmg.a.35732
- By:
- Publication type:
- Article
Four new patients with Gomez-Lopez-Hernandez syndrome and proposed diagnostic criteria.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 2, p. 320, doi. 10.1002/ajmg.a.35817
- By:
- Publication type:
- Article
A novel phenotype characterized by digital abnormalities, intellectual disability, and short stature in a Mexican family maps to Xp11.4-p11.21.
- Published in:
- 2013
- By:
- Publication type:
- Other
In this issue.
- Published in:
- 2013
- Publication type:
- Other
Complex II deficiency-A case report and review of the literature.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 2, p. 285, doi. 10.1002/ajmg.a.35714
- By:
- Publication type:
- Article
How to describe the clinical spectrum in Pompe disease?
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 2, p. 399, doi. 10.1002/ajmg.a.35662
- By:
- Publication type:
- Article
Exercise capacity impairment in individuals with neurofibromatosis type 1.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 2, p. 393, doi. 10.1002/ajmg.a.35729
- By:
- Publication type:
- Article
A boy with partial trisomy of chromosome 3q24-q28 from paternal balanced insertion and multiple congenital anomalies.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 2, p. 327, doi. 10.1002/ajmg.a.35637
- By:
- Publication type:
- Article
Characteristics and associated anomalies in radial ray deficiencies in Finland-A population-based study.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 2, p. 261, doi. 10.1002/ajmg.a.35707
- By:
- Publication type:
- Article