Works matching IS 15524825 AND DT 2017 AND VI 173 AND IP 3
Results: 50
Prenatal and postnatal presentations of corpus callosum agenesis with polymicrogyria caused by EGP5 mutation.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 706, doi. 10.1002/ajmg.a.38061
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- Article
An elderly Jervell and Lange-Nielsen patient heterozygous compound for two new KCNQ1 mutations.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 749, doi. 10.1002/ajmg.a.38062
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- Article
Continuing role for classical cytogenetics: Case report of a boy with ring syndrome caused by complete ring chromosome 4 and review of literature.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 727, doi. 10.1002/ajmg.a.38063
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- Article
Additional three patients with Smith-McCort dysplasia due to novel RAB33B mutations.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 588, doi. 10.1002/ajmg.a.38064
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- Article
CRTAP variants in early-onset osteoporosis and recurrent fractures.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 806, doi. 10.1002/ajmg.a.38065
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- Publication type:
- Article
Homozygous mutation in PRUNE1 in an Oji-Cree male with a complex neurological phenotype.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 740, doi. 10.1002/ajmg.a.38066
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- Article
The p.R56* mutation in PTHLH causes variable brachydactyly type E.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 816, doi. 10.1002/ajmg.a.38067
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- Article
The utility of alpha-fetoprotein screening in Beckwith-Wiedemann syndrome.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 581, doi. 10.1002/ajmg.a.38068
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- Article
A de novo splice site mutation in CASK causes FG syndrome-4 and congenital nystagmus.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 611, doi. 10.1002/ajmg.a.38069
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- Article
Adams-Oliver syndrome review of the literature: Refining the diagnostic phenotype.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 790, doi. 10.1002/ajmg.a.37889
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- Article
Publication schedule for 2017.
- Published in:
- 2017
- Publication type:
- Other
In this issue.
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- 2017
- Publication type:
- Other
10-year-old female with intragenic KANSL1 mutation, no KANSL1-related intellectual disability, and preserved verbal intelligence.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 762, doi. 10.1002/ajmg.a.38080
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- Article
Incidence of Fragile X syndrome in Ireland.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 678, doi. 10.1002/ajmg.a.38081
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- Publication type:
- Article
1q21.3 deletion involving GATAD2B: An emerging recurrent microdeletion syndrome.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 766, doi. 10.1002/ajmg.a.38082
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- Publication type:
- Article
TSC2 c.1864C>T variant associated with mild cases of tuberous sclerosis complex.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 771, doi. 10.1002/ajmg.a.38083
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- Article
Timothy syndrome 1 genotype without syndactyly and major extracardiac manifestations.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 784, doi. 10.1002/ajmg.a.38084
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- Article
Developing a CHARGE syndrome checklist: Health supervision across the lifespan (from head to toe).
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 684, doi. 10.1002/ajmg.a.38085
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- Publication type:
- Article
Constitutional bone impairment in Noonan syndrome.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 692, doi. 10.1002/ajmg.a.38086
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- Publication type:
- Article
Whole exome sequencing identified 1 base pair novel deletion in BCL2-associated athanogene 3 (BAG3) gene associated with severe dilated cardiomyopathy (DCM) requiring heart transplant in multiple family members.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 699, doi. 10.1002/ajmg.a.38087
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- Article
Brain hemorrhages in Jacobsen syndrome: A retrospective review of six cases and clinical recommendations.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 667, doi. 10.1002/ajmg.a.38032
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- Article
Signs of dysarthria in adults with 22q11.2 deletion syndrome.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 618, doi. 10.1002/ajmg.a.38038
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- Article
Out-of-pocket medical costs and third-party healthcare costs for children with Down syndrome.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 627, doi. 10.1002/ajmg.a.38050
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- Publication type:
- Article
Is cutis verticis Gyrata-Intellectual Disability syndrome an underdiagnosed condition? A case report and review of 62 cases.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 638, doi. 10.1002/ajmg.a.38054
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- Article
Analysis of copy number variants in 11 pairs of monozygotic twins with neurofibromatosis type 1.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 647, doi. 10.1002/ajmg.a.38058
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- Article
Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 733, doi. 10.1002/ajmg.a.38059
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- Article
CELSR2, encoding a planar cell polarity protein, is a putative gene in Joubert syndrome with cortical heterotopia, microophthalmia, and growth hormone deficiency.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 661, doi. 10.1002/ajmg.a.38005
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- Article
A Chinese patient with Toriello-Carey syndrome and an interstitial deletion of 3q.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 721, doi. 10.1002/ajmg.a.38009
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- Publication type:
- Article
Molecular and clinical analysis of ALPL in a cohort of patients with suspicion of Hypophosphatasia.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 601, doi. 10.1002/ajmg.a.37991
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- Article
Early embryonic development detailed in new digital atlas.
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- 2017
- Publication type:
- Other
American college of medical genetics and genomics updates secondary findings guidelines.
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- 2017
- Publication type:
- Other
Cover Image, Volume 173A, Number 3, March 2017.
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- 2017
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- Publication type:
- Other
The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan-like syndrome individual: Broadening the clinical phenotype.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 824, doi. 10.1002/ajmg.a.38070
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- Article
A de novo SATB2 mutation in monozygotic twins with cleft palate, dental anomalies, and developmental delay.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 809, doi. 10.1002/ajmg.a.38071
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- Publication type:
- Article
Atypical Angelman syndrome due to a mosaic imprinting defect: Case reports and review of the literature.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 753, doi. 10.1002/ajmg.a.38072
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- Article
Intrathecal enzyme replacement therapy reverses cognitive decline in mucopolysaccharidosis type I.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 780, doi. 10.1002/ajmg.a.38073
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- Publication type:
- Article
Prenatal diagnosis of inverted duplication deletion 8p syndrome mimicking trisomy 18.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 776, doi. 10.1002/ajmg.a.38074
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- Article
De novo 11q deletion including SHANK2 in a patient with global developmental delay.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 801, doi. 10.1002/ajmg.a.38075
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- Article
A novel AMPD2 mutation outside the AMP deaminase domain causes pontocerebellar hypoplasia type 9.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 820, doi. 10.1002/ajmg.a.38076
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- Publication type:
- Article
Serum alpha-fetoprotein screening for hepatoblastoma in Beckwith-Wiedemann syndrome.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 585, doi. 10.1002/ajmg.a.38077
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- Article
Missense variant in UBA2 associated with aplasia cutis congenita, duane anomaly, hip dysplasia and other anomalies: A possible new disorder involving the SUMOylation pathway.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 758, doi. 10.1002/ajmg.a.38078
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- Article
First report of factors associated with satisfaction in patients with neurofibromatosis.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 671, doi. 10.1002/ajmg.a.38079
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- Publication type:
- Article
Rare familial TSC2 gene mutation associated with atypical phenotype presentation of Tuberous Sclerosis Complex.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 744, doi. 10.1002/ajmg.a.38027
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- Publication type:
- Article
Table of Contents, Volume 173A, Number 3, March 2017.
- Published in:
- 2017
- Publication type:
- Other
A novel disorder of sex development, characterized by progressive regression of testicular function and cystic leukoencephalopathy.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 654, doi. 10.1002/ajmg.a.38093
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- Publication type:
- Article
Spectrum of mutations in the SMPD1 gene in Asian Indian patients with acid sphingomyelinase deficient Niemann-Pick disease.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 829, doi. 10.1002/ajmg.a.38040
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- Publication type:
- Article
A novel NDUFS4 frameshift mutation causes Leigh disease in the Hutterite population.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 596, doi. 10.1002/ajmg.a.37983
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- Publication type:
- Article
Surviving with trisomy 13: Provider and parent perspectives and the role of the pediatric palliative care program.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 813, doi. 10.1002/ajmg.a.37984
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- Publication type:
- Article
Potocki-Shaffer syndrome in a child without intellectual disability-The role of PHF21A in cognitive function.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 716, doi. 10.1002/ajmg.a.37988
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- Publication type:
- Article
A girl with developmental delay, ataxia, cranial nerve palsies, severe respiratory problems in infancy-Expanding NDST1 syndrome.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 712, doi. 10.1002/ajmg.a.37621
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- Publication type:
- Article