Works matching IS 15524825 AND DT 2016 AND VI 170A AND IP 9
Results: 47
Higher plasma orexin a levels in children with Prader-Willi syndrome compared with healthy unrelated sibling controls.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2328, doi. 10.1002/ajmg.a.37777
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- Publication type:
- Article
8q21.11 microdeletion in two patients with syndromic peters anomaly.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2471, doi. 10.1002/ajmg.a.37840
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- Article
Delayed diagnosis in a house of correction: Smith-Magenis syndrome due to a de novo nonsense RAI1 variant.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2383, doi. 10.1002/ajmg.a.37602
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- Article
Van der Woude and Popliteal Pterygium Syndromes: Broad intrafamilial variability in a three generation family with mutation in IRF6.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2404, doi. 10.1002/ajmg.a.37791
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- Article
Genotype-phenotype correlation and pregnancy outcomes of partial trisomy 14q: A systematic review.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2365, doi. 10.1002/ajmg.a.37793
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- Article
Homozygous deletion of exons 2 and 3 of NPC2 associated with Niemann-Pick disease type C.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2486, doi. 10.1002/ajmg.a.37794
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- Publication type:
- Article
The first patient with tandem duplication of 6q14q16: Molecular and phenotypic characterization.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2416, doi. 10.1002/ajmg.a.37797
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- Article
BRAT1 mutations are associated with infantile epileptic encephalopathy, mitochondrial dysfunction, and survival into childhood.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2274, doi. 10.1002/ajmg.a.37798
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- Publication type:
- Article
Is one diagnosis the whole story? patients with double diagnoses.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2338, doi. 10.1002/ajmg.a.37799
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- Publication type:
- Article
Analysis of peripheral amyloid precursor protein in Angelman Syndrome.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2334, doi. 10.1002/ajmg.a.37811
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- Article
Neurophysiology versus clinical genetics in Rett syndrome: A multicenter study.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2301, doi. 10.1002/ajmg.a.37812
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- Article
Perceived motor problems in daily life: Focus group interviews with people with Noonan syndrome and their relatives.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2349, doi. 10.1002/ajmg.a.37814
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- Publication type:
- Article
Oro-dental features of Pallister-Killian syndrome: Evaluation of 21 European probands.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2357, doi. 10.1002/ajmg.a.37815
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- Article
Recurrence of split hand/foot malformation, cleft lip/palate, and severe urogenital abnormalities due to germline mosaicism for TP63 mutation.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2372, doi. 10.1002/ajmg.a.37816
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- Publication type:
- Article
Macrosomia, obesity, and macrocephaly as first clinical presentation of PHP1b caused by STX16 deletion.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2431, doi. 10.1002/ajmg.a.37818
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- Article
Tumor screening in Beckwith-Wiedemann syndrome-To screen or not to screen?
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2261, doi. 10.1002/ajmg.a.37881
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- Article
Cover Image, Volume 170A, Number 9, September 2016.
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- 2016
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- Publication type:
- Other
Role of CFTR variants explored in developing cystic fibrosis symptoms.
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- 2016
- Publication type:
- Other
HIPAA complaint alleges myriad genetics withheld variant data from patients.
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- 2016
- Publication type:
- Other
De novo frameshift mutation in COUP-TFII ( NR2F2) in human congenital diaphragmatic hernia.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2457, doi. 10.1002/ajmg.a.37830
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- Article
Diagnosis of Van den Ende-Gupta syndrome: Approach to the Marden-Walker-like spectrum of disorders.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2310, doi. 10.1002/ajmg.a.37831
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- Article
SETD5 loss-of-function mutation as a likely cause of a familial syndromic intellectual disability with variable phenotypic expression.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2322, doi. 10.1002/ajmg.a.37832
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- Article
Mandibular dysostosis without microphthalmia caused by OTX2 deletion.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2466, doi. 10.1002/ajmg.a.37837
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- Article
Further evidence of POP1 mutations as the cause of anauxetic dysplasia.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2462, doi. 10.1002/ajmg.a.37839
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- Article
A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2237, doi. 10.1002/ajmg.a.37781
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- Article
Deletion 2q37 syndrome: Cognitive-behavioral trajectories and autistic features related to breakpoint and deletion size.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2282, doi. 10.1002/ajmg.a.37782
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- Article
BRAT1 mutations present with a spectrum of clinical severity.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2265, doi. 10.1002/ajmg.a.37783
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- Article
Determinants of sleep disturbances in Rett syndrome: Novel findings in relation to genotype.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2292, doi. 10.1002/ajmg.a.37784
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- Article
Interstitial 1q23.3q24.1 deletion in a patient with renal malformation, congenital heart disease, and mild intellectual disability.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2394, doi. 10.1002/ajmg.a.37785
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- Article
Deletion upstream of SALL1 producing Townes-Brocks syndrome.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2476, doi. 10.1002/ajmg.a.37786
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- Publication type:
- Article
Chronic intestinal pseudo-obstruction in a child harboring a founder Hirschsprung RET mutation.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2400, doi. 10.1002/ajmg.a.37787
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- Article
Urorectal septum malformation sequence-Fetal series with the description of a new 'intermediate' variant. Time to refine the terminology?
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2479, doi. 10.1002/ajmg.a.37788
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- Article
RIN2 syndrome: Expanding the clinical phenotype.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2408, doi. 10.1002/ajmg.a.37789
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- Publication type:
- Article
Phenotype, cancer risk, and surveillance in Beckwith-Wiedemann syndrome depending on molecular genetic subgroups.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2248, doi. 10.1002/ajmg.a.37801
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- Publication type:
- Article
MED23-associated refractory epilepsy successfully treated with the ketogenic diet.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2421, doi. 10.1002/ajmg.a.37802
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- Publication type:
- Article
A novel MED12 mutation: Evidence for a fourth phenotype.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2377, doi. 10.1002/ajmg.a.37805
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- Publication type:
- Article
Prenatal diagnosis of Chudley-McCullough syndrome.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2426, doi. 10.1002/ajmg.a.37806
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- Publication type:
- Article
Congenital immunodeficiency in an individual with Wiedemann-Steiner syndrome due to a novel missense mutation in KMT2A.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2389, doi. 10.1002/ajmg.a.37681
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- Article
Table of Contents, Volume 170A, Number 9, September 2016.
- Published in:
- 2016
- Publication type:
- Other
Publication schedule for 2016.
- Published in:
- 2016
- Publication type:
- Other
In this issue.
- Published in:
- 2016
- Publication type:
- Other
Phenotypic expansion of TBX4 mutations to include acinar dysplasia of the lungs.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2440, doi. 10.1002/ajmg.a.37822
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- Article
A novel homozygous PAM16 mutation in a patient with a milder phenotype and longer survival.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2436, doi. 10.1002/ajmg.a.37823
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- Publication type:
- Article
A novel 5q11.2 microdeletion in a child with mild developmental delay and dysmorphic features.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2445, doi. 10.1002/ajmg.a.37824
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- Publication type:
- Article
A patient with Temple syndrome satisfying the clinical diagnostic criteria of Silver-Russell syndrome.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2483, doi. 10.1002/ajmg.a.37827
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- Article
Siblings with severe pyruvate kinase deficiency and a complex genotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2449, doi. 10.1002/ajmg.a.37828
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- Article
Homozygosity for moyamoya disease risk allele leads to moyamoya disease with extracranial systemic and pulmonary vasculopathy.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2453, doi. 10.1002/ajmg.a.37829
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- Article