Works matching IS 15524825 AND DT 2017 AND VI 173 AND IP 10
Results: 48
A new CUL4B variant associated with a mild phenotype and an exceptional pattern of leukoencephalopathy.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2803, doi. 10.1002/ajmg.a.38390
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- Article
A novel genetic syndrome with STARD9 mutation and abnormal spindle morphology.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2690, doi. 10.1002/ajmg.a.38391
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- Article
Cystic kidneys in fetal Walker-Warburg syndrome with POMT2 mutation: Intrafamilial phenotypic variability in four siblings and review of literature.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2697, doi. 10.1002/ajmg.a.38393
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- Article
Diaphanospondylodysostosis and ischiospinal dysostosis, evidence for one disorder with variable expression in a patient who has survived to age 9 years.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2808, doi. 10.1002/ajmg.a.38395
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- Article
A splice-site variant in ANKRD11 associated with classical KBG syndrome.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2844, doi. 10.1002/ajmg.a.38397
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- Article
Progressive macrothrombocytopenia and hearing loss in a large family with DIAPH1 related disease.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2826, doi. 10.1002/ajmg.a.38411
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- Article
Continuous hypomethylation of the KCNQ1OT1:TSS-DMR in monochorionic twins discordant for Beckwith-Wiedemann syndrome.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2847, doi. 10.1002/ajmg.a.38419
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- Article
Table of Contents, Volume 173A, Number 10, October 2017.
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- 2017
- Publication type:
- Other
Publication schedule for 2017.
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- 2017
- Publication type:
- Other
In this issue.
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- 2017
- Publication type:
- Other
Cover Image, Volume 173A, Number 10, October 2017.
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- 2017
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- Other
Genome-wide cell free fetal DNA screening spots variations standard screening doesn't.
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- 2017
- Publication type:
- Other
New intellectual disability syndrome identified.
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- 2017
- Publication type:
- Other
Variable expressivity and incomplete penetrance in a large family with non-classical Diamond-Blackfan anemia associated with ribosomal protein L11 splicing variant.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2622, doi. 10.1002/ajmg.a.38360
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- Article
Vitamin D levels in Smith-Lemli-Opitz syndrome.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2577, doi. 10.1002/ajmg.a.38361
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- Article
Co-occurrence of Sturge-Weber syndrome and Klippel-Trenaunay-Weber syndrome phenotype: Consideration of the historical aspect.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2831, doi. 10.1002/ajmg.a.38363
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- Article
Expanding the phenotype of DST-related disorder: A case report suggesting a genotype/phenotype correlation.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2743, doi. 10.1002/ajmg.a.38367
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- Article
Additional report on Moreno-Nishimura-Schmidt overgrowth syndrome.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2834, doi. 10.1002/ajmg.a.38368
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- Article
Three cases of multi-generational Pompe disease: Are current practices missing diagnostic and treatment opportunities?
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2628, doi. 10.1002/ajmg.a.38369
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- Article
Stakeholders in psychiatry and their attitudes toward receiving pertinent and incident findings in genomic research.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2649, doi. 10.1002/ajmg.a.38380
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- Article
New intragenic rearrangements in non-Finnish mulibrey nanism.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2782, doi. 10.1002/ajmg.a.38381
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- Article
Neonatal fractures as a presenting feature of LMOD3-associated congenital myopathy.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2789, doi. 10.1002/ajmg.a.38383
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- Article
Paternal transmission of a FMR1 full mutation allele.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2795, doi. 10.1002/ajmg.a.38384
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- Article
Two unrelated children with overlapping 6q25.3 deletions, motor speech disorders, and language delays.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2659, doi. 10.1002/ajmg.a.38385
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- Article
Interstitial deletion 5p14.1-p15.2 and 5q14.3-q23.2 in a patient with clubfoot, blepharophimosis, arthrogryposis, and multiple congenital abnormalities.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2798, doi. 10.1002/ajmg.a.38386
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- Article
Congenital neurodevelopmental anomalies in pediatric and young adult cancer.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2670, doi. 10.1002/ajmg.a.38387
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- Article
Clinical and molecular characterization of de novo loss of function variants in HNRNPU.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2680, doi. 10.1002/ajmg.a.38388
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- Article
A novel heterozygous mutation in FGFR2 gene causing Pfeiffer syndrome.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2838, doi. 10.1002/ajmg.a.38389
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- Article
Prevalence of gastrointestinal symptoms in Angelman syndrome.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2703, doi. 10.1002/ajmg.a.38401
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- Article
Estimation of live birth and population prevalence of Down syndrome in nine U.S. states.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2710, doi. 10.1002/ajmg.a.38402
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- Article
The role of IQSEC2 in syndromic intellectual disability: Narrowing the diagnostic odyssey.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2814, doi. 10.1002/ajmg.a.38404
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- Article
Preaxial polydactyly in an individual with Wiedemann-Steiner syndrome caused by a novel nonsense mutation in KMT2A.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2821, doi. 10.1002/ajmg.a.38405
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- Article
Whole exome sequencing identified genetic variations in Chinese hemangioblastoma patients.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2605, doi. 10.1002/ajmg.a.38350
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- Article
Co-occurring Down syndrome and SUCLA2-related mitochondrial depletion syndrome.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2720, doi. 10.1002/ajmg.a.38351
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- Article
De novo pathogenic variant in TUBB2A presenting with arthrogryposis multiplex congenita, brain abnormalities, and severe developmental delay.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2725, doi. 10.1002/ajmg.a.38352
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- Publication type:
- Article
Lin-Gettig syndrome: Craniosynostosis expands the spectrum of the KAT6B related disorders.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2596, doi. 10.1002/ajmg.a.38355
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- Article
The phenotype of EZH2 haploinsufficiency-1.2-Mb deletion at 7q36.1 in a child with tall stature and intellectual disability.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2731, doi. 10.1002/ajmg.a.38356
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- Article
The pregnancy in neurofibromatosis 1: A retrospective register-based total population study.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2641, doi. 10.1002/ajmg.a.38372
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- Article
Congenital disorders of glycosylation: The Saudi experience.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2614, doi. 10.1002/ajmg.a.38358
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- Publication type:
- Article
Novel PRPS1 gain-of-function mutation in a patient with congenital hyperuricemia and facial anomalies.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2736, doi. 10.1002/ajmg.a.38359
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- Publication type:
- Article
Monoallelic FGFR3 and Biallelic ALPL mutations in a Thai girl with hypochondroplasia and hypophosphatasia.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2747, doi. 10.1002/ajmg.a.38370
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- Publication type:
- Article
Factors related to home health-care transition in trisomy 13.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2635, doi. 10.1002/ajmg.a.38371
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- Publication type:
- Article
Best practices in peri-operative management of patients with skeletal dysplasias.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2584, doi. 10.1002/ajmg.a.38357
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- Publication type:
- Article
Epilepsy in fragile-X-syndrome mimicking panayiotopoulos syndrome: Description of three patients.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2753, doi. 10.1002/ajmg.a.38373
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- Publication type:
- Article
A human case of SLC35A3-related skeletal dysplasia.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2758, doi. 10.1002/ajmg.a.38374
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- Publication type:
- Article
Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2763, doi. 10.1002/ajmg.a.38375
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- Article
ALG13-CDG in a male with seizures, normal cognitive development, and normal transferrin isoelectric focusing.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2772, doi. 10.1002/ajmg.a.38377
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- Publication type:
- Article
Prenatal presentation of Mabry syndrome with congenital diaphragmatic hernia and phenotypic overlap with Fryns syndrome.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2776, doi. 10.1002/ajmg.a.38379
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- Article