Works matching IS 15524825 AND DT 2015 AND VI 167A AND IP 4
Results: 49
American Journal of Medical Genetics Part A: Volume 167A, Number 4, April 2015.
- Published in:
- 2015
- Publication type:
- Other
Rapidly progressive hypertrophic cardiomyopathy in an infant with Noonan syndrome with multiple lentigines: Palliative treatment with a rapamycin analog.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 4, p. 744, doi. 10.1002/ajmg.a.36982
- By:
- Publication type:
- Article
In this issue.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 4, p. x, doi. 10.1002/ajmg.a.37061
- Publication type:
- Article
Microcephaly, ectodermal dysplasia, multiple skeletal anomalies and distinctive facial appearance: Delineation of cerebro-dermato-osseous-dysplasia.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 4, p. 842, doi. 10.1002/ajmg.a.36983
- By:
- Publication type:
- Article
Beare-Stevenson syndrome: Two new patients, including a novel finding of tracheal cartilaginous sleeve.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 4, p. 852, doi. 10.1002/ajmg.a.36985
- By:
- Publication type:
- Article
Mutations in PIGL in a patient with Mabry syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 4, p. 777, doi. 10.1002/ajmg.a.36987
- By:
- Publication type:
- Article
Identification of the fourth duplication of upstream IHH regulatory elements, in a family with craniosynostosis Philadelphia type, helps to define the phenotypic characterization of these regulatory elements.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 4, p. 902, doi. 10.1002/ajmg.a.36811
- By:
- Publication type:
- Article
Settlement reached over medicaid coverage of cystic fibrosis drug.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 4, p. viii, doi. 10.1002/ajmg.a.37060
- Publication type:
- Article
Neonatal diabetes mellitus due to a novel mutation in the GATA6 gene accompanying renal dysfunction: A case report.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 4, p. 925, doi. 10.1002/ajmg.a.36984
- By:
- Publication type:
- Article
Diagnosis of 9q22.3 microdeletion syndrome in utero following identification of craniosynostosis, overgrowth, and skeletal anomalies.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 4, p. 862, doi. 10.1002/ajmg.a.37013
- By:
- Publication type:
- Article
Persistence of müllerian duct structures in a genetic male with distal monosomy 10q.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 4, p. 791, doi. 10.1002/ajmg.a.37014
- By:
- Publication type:
- Article
Grade II pilocytic astrocytoma in a 3-month-old patient with encephalocraniocutaneous lipomatosis (ECCL): Case report and literature review of low grade gliomas in ECCL.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 4, p. 878, doi. 10.1002/ajmg.a.37017
- By:
- Publication type:
- Article
ECEL1 mutation causes fetal arthrogryposis multiplex congenita.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 4, p. 731, doi. 10.1002/ajmg.a.37018
- By:
- Publication type:
- Article
Remembered: Elisabeth G. Kaveggia.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 4, p. 681, doi. 10.1002/ajmg.a.36885
- By:
- Publication type:
- Article
A novel mutation in RNU4ATAC in a patient with microcephalic osteodysplastic primordial dwarfism type I.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 4, p. 919, doi. 10.1002/ajmg.a.36955
- By:
- Publication type:
- Article
Multi-systemic involvement in NGLY1-related disorder caused by two novel mutations.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 4, p. 816, doi. 10.1002/ajmg.a.36889
- By:
- Publication type:
- Article
A de novo proximal 3q29 chromosome microduplication in a patient with oculo auriculo vertebral spectrum.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 4, p. 797, doi. 10.1002/ajmg.a.36951
- By:
- Publication type:
- Article
Derogatory nomenclature is still being used: The example of split hand/foot.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 4, p. 928, doi. 10.1002/ajmg.a.36952
- By:
- Publication type:
- Article
Craniosynostosis and risk factors related to thyroid dysfunction.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 4, p. 701, doi. 10.1002/ajmg.a.36953
- By:
- Publication type:
- Article
Six additional cases of SEDC due to the same and recurrent R989C mutation in the COL2A1 gene-the clinical and radiological follow-up.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 4, p. 894, doi. 10.1002/ajmg.a.36954
- By:
- Publication type:
- Article
Anticipation in myotonic dystrophy type 1 parents with small CTG expansions.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 4, p. 708, doi. 10.1002/ajmg.a.36950
- By:
- Publication type:
- Article
Partial monosomy of 11q22.2q22.3 including the SDHD gene in individuals with developmental delay.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 4, p. 695, doi. 10.1002/ajmg.a.36956
- By:
- Publication type:
- Article
Long term follow-up in a patient with a de novo microdeletion of 14q11.2 involving CHD8.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 4, p. 837, doi. 10.1002/ajmg.a.36957
- By:
- Publication type:
- Article
Mosaic trisomy 15 in a liveborn infant.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 4, p. 821, doi. 10.1002/ajmg.a.36958
- By:
- Publication type:
- Article
An association of 19p13.2 microdeletions with Malan syndrome and Chiari malformation.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 4, p. 724, doi. 10.1002/ajmg.a.36959
- By:
- Publication type:
- Article
A novel mutation in COL4A1 gene: A possible cause of early postnatal cerebrovascular events.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 4, p. 810, doi. 10.1002/ajmg.a.36907
- By:
- Publication type:
- Article
Table of Contents, Volume 167A, Number 4, April 2015.
- Published in:
- 2015
- Publication type:
- Other
Novel STAMBP mutation and additional findings in an Arabic family.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 4, p. 805, doi. 10.1002/ajmg.a.36782
- By:
- Publication type:
- Article
An infant with large fontanelles, aplasia cutis congenita, tessier facial cleft, polydactyly inversus, and toe syndactyly: A previously undescribed syndrome?
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 4, p. 683, doi. 10.1002/ajmg.a.36927
- By:
- Publication type:
- Article
Legal, ethical issues loom over topic of recontacting patients.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 4, p. vii, doi. 10.1002/ajmg.a.37059
- Publication type:
- Article
Estimates of the live births, natural losses, and elective terminations with Down syndrome in the United States.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 4, p. 756, doi. 10.1002/ajmg.a.37001
- By:
- Publication type:
- Article
Alexithymia, emotion perception, and social assertiveness in adult women with Noonan and Turner syndromes.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 4, p. 768, doi. 10.1002/ajmg.a.37006
- By:
- Publication type:
- Article
Longitudinal polysomnographic findings in infantile Pompe disease.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 4, p. 858, doi. 10.1002/ajmg.a.37007
- By:
- Publication type:
- Article
Interstitial deletion 5q14.3q21.3 associated with lethal epilepsy.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 4, p. 866, doi. 10.1002/ajmg.a.36991
- By:
- Publication type:
- Article
Exome sequencing establishes diagnosis of Alström syndrome in an infant presenting with non-syndromic dilated cardiomyopathy.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 4, p. 886, doi. 10.1002/ajmg.a.36994
- By:
- Publication type:
- Article
Exome sequencing reveals compound heterozygous mutations in ATP8B1 in a JAG1/NOTCH2 mutation-negative patient with clinically diagnosed Alagille syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 4, p. 891, doi. 10.1002/ajmg.a.36946
- By:
- Publication type:
- Article
Mosaic overgrowth with fibroadipose hyperplasia due to AKT1 mutation.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 4, p. 907, doi. 10.1002/ajmg.a.36947
- By:
- Publication type:
- Article
Novel de novo mutations in EFTUD2 detected by exome sequencing in mandibulofacial dysostosis with Microcephaly syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 4, p. 914, doi. 10.1002/ajmg.a.36948
- By:
- Publication type:
- Article
Clinical comparison of 10q26 overlapping deletions: Delineating the critical region for urogenital anomalies.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 4, p. 786, doi. 10.1002/ajmg.a.36949
- By:
- Publication type:
- Article
Sex-discordant monochorionic twins with blood and tissue chimerism.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 4, p. 872, doi. 10.1002/ajmg.a.37022
- By:
- Publication type:
- Article
A South African mixed race lip/philtrum guide for diagnosis of fetal alcohol spectrum disorders.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 4, p. 752, doi. 10.1002/ajmg.a.37023
- By:
- Publication type:
- Article
Neonatal pulmonary arterial hypertension and Noonan syndrome: Two fatal cases with a specific RAF1 mutation.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 4, p. 882, doi. 10.1002/ajmg.a.37024
- By:
- Publication type:
- Article
FBN1 contributing to familial congenital diaphragmatic hernia.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 4, p. 831, doi. 10.1002/ajmg.a.36960
- By:
- Publication type:
- Article
Infantile onset Vanishing White Matter disease associated with a novel EIF2B5 variant, remarkably long life span, severe epilepsy, and hypopituitarism.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 4, p. 826, doi. 10.1002/ajmg.a.36961
- By:
- Publication type:
- Article
Constitutional chromothripsis involving chromosome 19 in a child with subtle dysmorphic features.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 4, p. 910, doi. 10.1002/ajmg.a.36962
- By:
- Publication type:
- Article
Phenotypic sub-grouping in microtia using a statistical and a clinical approach.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 4, p. 688, doi. 10.1002/ajmg.a.36963
- By:
- Publication type:
- Article
Effective provision of a genetic screening program delivered to University students with limited resources.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 4, p. 922, doi. 10.1002/ajmg.a.36964
- By:
- Publication type:
- Article
Analysis of CHRNA7 rare variants in autism spectrum disorder susceptibility.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 4, p. 715, doi. 10.1002/ajmg.a.36847
- By:
- Publication type:
- Article
Is cardiac rhabdomyoma a feature of Birt Hogg Dubé syndrome?
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 4, p. 802, doi. 10.1002/ajmg.a.36917
- By:
- Publication type:
- Article