Works matching IS 15524825 AND DT 2016 AND VI 170A AND IP 6
Results: 47
Website aims to accelerate gene discovery, diagnosis, treatment.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1388, doi. 10.1002/ajmg.a.37746
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- Article
In this issue.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1390, doi. 10.1002/ajmg.a.37747
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- Article
Cover Image, Volume 170A, Number 6, June 2016.
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- 2016
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- Publication type:
- Other
The management of pregnancy and delivery in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1600, doi. 10.1002/ajmg.a.37620
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- Article
Histologically benign, clinically aggressive: Progressive non-optic pathway pilocytic astrocytomas in adults with NF1.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1455, doi. 10.1002/ajmg.a.37622
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- Article
Table of Contents, Volume 170A, Number 6, June 2016.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1381, doi. 10.1002/ajmg.a.37315
- Publication type:
- Article
Acceptance and commitment therapy in youth with neurofibromatosis type 1 (NF1) and chronic pain and their parents: A pilot study of feasibility and preliminary efficacy.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1462, doi. 10.1002/ajmg.a.37623
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- Publication type:
- Article
Publication schedule for 2016.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1386, doi. 10.1002/ajmg.a.37316
- Publication type:
- Article
Postnatal microcephaly and pain insensitivity due to a de novo heterozygous DNM1L mutation causing impaired mitochondrial fission and function.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1603, doi. 10.1002/ajmg.a.37624
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- Publication type:
- Article
Whole-exome sequencing strategy proposed as first-line test.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1387, doi. 10.1002/ajmg.a.37317
- Publication type:
- Article
Respiratory and gastrointestinal dysfunctions associated with auriculo-condylar syndrome and a homozygous PLCB4 loss-of-function mutation.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1471, doi. 10.1002/ajmg.a.37625
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- Article
Further delineation of facioaudiosymphalangism syndrome: Description of a family with a novel NOG mutation and without hearing loss.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1479, doi. 10.1002/ajmg.a.37626
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- Publication type:
- Article
Normal cognitive outcome in a PEX6 deficient girl despite neonatal multisystem presentation.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1642, doi. 10.1002/ajmg.a.37628
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- Publication type:
- Article
Apert and Crouzon syndromes-Cognitive development, brain abnormalities, and molecular aspects.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1532, doi. 10.1002/ajmg.a.37640
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- Publication type:
- Article
Additional data on the clinical phenotype of Helsmoortel-Van der Aa syndrome associated with a novel truncating mutation in ADNP gene.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1647, doi. 10.1002/ajmg.a.37641
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- Publication type:
- Article
TP63 mutation in a patient with acro-dermo-ungual-lacrimal-tooth syndrome: Additional evidence of molecular overlap of the ADULT and EEC syndromes.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1635, doi. 10.1002/ajmg.a.37642
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- Publication type:
- Article
Complex Camptosynpolydactyly and Mesoaxial synostotic syndactyly with phalangeal reduction are allelic disorders.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1622, doi. 10.1002/ajmg.a.37643
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- Publication type:
- Article
Do patients with tuberous sclerosis complex have an increased risk for malignancies?
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1538, doi. 10.1002/ajmg.a.37644
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- Publication type:
- Article
Novel de novo mutations in ZBTB20 in Primrose syndrome with congenital hypothyroidism.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1626, doi. 10.1002/ajmg.a.37645
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- Publication type:
- Article
Healthcare utilization in chromosome 22q11.2 deletion patients with cardiac disease and low T cell counts.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1630, doi. 10.1002/ajmg.a.37648
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- Publication type:
- Article
The rare Costello variant HRAS c.173C>T (p.T58I) with severe neonatal hypertrophic cardiomyopathy.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1433, doi. 10.1002/ajmg.a.37596
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- Publication type:
- Article
De novo 14q24.2q24.3 microdeletion including IFT43 is associated with intellectual disability, skeletal anomalies, cardiac anomalies, and myopia.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1566, doi. 10.1002/ajmg.a.37598
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- Publication type:
- Article
Second Pallister-Opitz Genetics Symposium, Helena, Montana, July 2015.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1405, doi. 10.1002/ajmg.a.37599
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- Publication type:
- Article
Autosomal recessive MFN2-related Charcot-Marie-Tooth disease with diaphragmatic weakness: Case report and literature review.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1580, doi. 10.1002/ajmg.a.37611
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- Publication type:
- Article
Lack of mutation-histopathology correlation in a patient with Proteus syndrome.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1422, doi. 10.1002/ajmg.a.37612
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- Publication type:
- Article
RASA1 somatic mutation and variable expressivity in capillary malformation/arteriovenous malformation (CM/AVM) syndrome.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1450, doi. 10.1002/ajmg.a.37613
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- Article
Delineation of a recognizable phenotype for the recurrent LCR22-C to D/E atypical 22q11.2 deletion.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1485, doi. 10.1002/ajmg.a.37614
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- Article
PCDH19-related epileptic encephalopathy in a male mosaic for a truncating variant.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1585, doi. 10.1002/ajmg.a.37617
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- Article
Trisomy 3 mosaicism in a 5-year-old boy with multiple anomalies: A very rare case.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1590, doi. 10.1002/ajmg.a.37618
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- Article
Early severe scoliosis in a patient with atypical progressive pseudorheumatoid dysplasia (PPD): Identification of two WISP3 mutations, one previously unreported.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1595, doi. 10.1002/ajmg.a.37619
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- Publication type:
- Article
KCNQ1 mutations associated with Jervell and Lange-Nielsen syndrome and autosomal recessive Romano-Ward syndrome in India-expanding the spectrum of long QT syndrome type 1.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1510, doi. 10.1002/ajmg.a.37636
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- Publication type:
- Article
Molecularly proven mosaicism in phenotypically normal parent of a girl with Freeman-Sheldon Syndrome caused by a pathogenic MYH3 mutation.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1608, doi. 10.1002/ajmg.a.37631
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- Publication type:
- Article
Exome sequencing reveals a novel CWF19L1 mutation associated with intellectual disability and cerebellar atrophy.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1502, doi. 10.1002/ajmg.a.37632
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- Publication type:
- Article
De novo exonic deletion of KDM6A in a Chinese girl with Kabuki syndrome: A case report and brief literature review.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1613, doi. 10.1002/ajmg.a.37634
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- Article
James L. German, a pioneer in early human genetic research turned 90.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1564, doi. 10.1002/ajmg.a.37635
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- Publication type:
- Article
Oblique facial clefts in Johanson-Blizzard syndrome.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1495, doi. 10.1002/ajmg.a.37630
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- Publication type:
- Article
Thinking of VACTERL-H? Rule out Fanconi Anemia according to PHENOS.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1520, doi. 10.1002/ajmg.a.37637
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- Publication type:
- Article
Nutritional aspects of Noonan syndrome and Noonan-related disorders.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1525, doi. 10.1002/ajmg.a.37639
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- Publication type:
- Article
Safety and efficacy of rivastigmine in children with Down syndrome: A double blind placebo controlled trial.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1545, doi. 10.1002/ajmg.a.37650
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- Publication type:
- Article
Microcephaly, dysmorphic features, corneal dystrophy, hairy nipples, underdeveloped labioscrotal folds, and small cerebellum in four patients.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1391, doi. 10.1002/ajmg.a.37652
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- Publication type:
- Article
Hypertrophic neuropathy in Noonan syndrome with multiple lentigines.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1570, doi. 10.1002/ajmg.a.37601
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- Article
Clinical audit of genetic testing and referral patterns for fragile X and associated conditions.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1439, doi. 10.1002/ajmg.a.37603
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- Article
Further defining the phenotypic spectrum of B4GALT7 mutations.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1556, doi. 10.1002/ajmg.a.37604
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- Article
Man of Science, Man of God -Gregor Mendel-Discovering the Gene-For his 150th anniversary.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1651, doi. 10.1002/ajmg.a.37605
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- Article
A novel EDARADD 5′-splice site mutation resulting in activation of two alternate cryptic 5′-splice sites causes autosomal recessive Hypohidrotic Ectodermal Dysplasia.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1639, doi. 10.1002/ajmg.a.37607
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- Publication type:
- Article
Congenital limb deficiency classification and nomenclature: The need for a consensus.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1400, doi. 10.1002/ajmg.a.37608
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- Publication type:
- Article
Identification of a novel insertion mutation in FGFR3 that causes thanatophoric dysplasia type 1.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1573, doi. 10.1002/ajmg.a.37609
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- Article