Works matching IS 15524825 AND DT 2016 AND VI 170A AND IP 11
Results: 47
Table of Contents, Volume 170A, Number 11, November 2016.
- Published in:
- 2016
- Publication type:
- Other
Publication schedule for 2016.
- Published in:
- 2016
- Publication type:
- Other
Role of inherited variants in nonsyndromic heart defects confirmed.
- Published in:
- 2016
- Publication type:
- Other
Intragenic CNVs for epigenetic regulatory genes in intellectual disability: Survey identifies pathogenic and benign single exon changes.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 2916, doi. 10.1002/ajmg.a.37669
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- Publication type:
- Article
Expanding the phenotype of Triple X syndrome: A comparison of prenatal versus postnatal diagnosis.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 2870, doi. 10.1002/ajmg.a.37688
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- Publication type:
- Article
Annals of morphology THEODOR BOVERI (1862-1915) To commemorate the centenary of his death and contributions to the Sutton-Boveri hypothesis.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 2803, doi. 10.1002/ajmg.a.37693
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- Publication type:
- Article
Review of the recurrent 8q13.2q13.3 branchio-oto-renal related microdeletion, and report of an additional case with associated distal arthrogryposis.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 2984, doi. 10.1002/ajmg.a.37695
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- Publication type:
- Article
Unusual skin manifestations in a patient with menkes disease.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 3039, doi. 10.1002/ajmg.a.37696
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- Publication type:
- Article
Response to: Papetti et al., 'The crucial role of FBXO28 in the pathogenesis of the 1q41q42 microdeletion syndrome'.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 3054, doi. 10.1002/ajmg.a.37742
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- Publication type:
- Article
The crucial role of FBXO28 in the pathogenesis of the 1q41q42 microdeletion syndrome.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 3041, doi. 10.1002/ajmg.a.37753
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- Publication type:
- Article
Autosomal dominant osteopetrosis associated with renal tubular acidosis is due to a CLCN7 mutation.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 2988, doi. 10.1002/ajmg.a.37755
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- Publication type:
- Article
Protein-losing enteropathy with intestinal lymphangiectasia in skeletal dysplasia with Lys650Met mutation.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 2993, doi. 10.1002/ajmg.a.37756
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- Publication type:
- Article
Phenotypic variability in patients with interstitial 6q21-q22 microdeletion and Acro-Cardio-Facial syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 2998, doi. 10.1002/ajmg.a.37759
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- Publication type:
- Article
The neuropsychological function of children with achondroplasia.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 2882, doi. 10.1002/ajmg.a.37779
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- Publication type:
- Article
Two novel EIF2S3 mutations associated with syndromic intellectual disability with severe microcephaly, growth retardation, and epilepsy.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 2927, doi. 10.1002/ajmg.a.37792
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- Publication type:
- Article
In memoriam: Dr. Andrew Czeizel.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 2832, doi. 10.1002/ajmg.a.37813
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- Publication type:
- Article
16p11.2 deletion and duplication: Characterizing neurologic phenotypes in a large clinically ascertained cohort.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 2943, doi. 10.1002/ajmg.a.37820
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- Publication type:
- Article
In memoriam: Dr. Andrew E. Czeizel (April 03, 1935-August 10, 2015).
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 2830, doi. 10.1002/ajmg.a.37821
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- Publication type:
- Article
Exome sequencing-based identification of mutations in non-syndromic genes among individuals with apparently syndromic features.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 2889, doi. 10.1002/ajmg.a.37826
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- Publication type:
- Article
Pseudo-dominant inheritance of a novel double GLA mutation associated with Fabry disease mimicking familial episodic pain.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 3051, doi. 10.1002/ajmg.a.37833
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- Publication type:
- Article
Clinical findings in a patient with FARS2 mutations and early-infantile-encephalopathy with epilepsy.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 3004, doi. 10.1002/ajmg.a.37836
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- Publication type:
- Article
'It wasn't a disaster or anything': Parents' experiences of their child's uncertain chromosomal microarray result.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 2895, doi. 10.1002/ajmg.a.37838
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- Publication type:
- Article
17q12 deletion and duplication syndrome in Denmark-A clinical cohort of 38 patients and review of the literature.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 2934, doi. 10.1002/ajmg.a.37848
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- Publication type:
- Article
Neonatal McCune-Albright syndrome with survival beyond two years.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 3008, doi. 10.1002/ajmg.a.37841
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- Publication type:
- Article
Nine year old boy with chromosome 1q23.3-q25.1 deletion.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 3013, doi. 10.1002/ajmg.a.37843
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- Publication type:
- Article
Microcephaly-capillary malformation syndrome: Brothers with a homozygous STAMBP mutation, uncovered by exome sequencing.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 3018, doi. 10.1002/ajmg.a.37845
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- Publication type:
- Article
Atypical presentation of infantile-onset farber disease with novel ASAH1 mutations.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 3023, doi. 10.1002/ajmg.a.37846
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- Publication type:
- Article
Increased bone turnover, osteoporosis, progressive tibial bowing, fractures, and scoliosis in a patient with a final-exon SATB2 frameshift mutation.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 3028, doi. 10.1002/ajmg.a.37847
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- Publication type:
- Article
Clinical and genetic aspects of KBG syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 2835, doi. 10.1002/ajmg.a.37842
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- Publication type:
- Article
Status dystonicus in two patients with SOX2-anophthalmia syndrome and nonsense mutations.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 3048, doi. 10.1002/ajmg.a.37849
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- Publication type:
- Article
3D morphometry aids facial analysis of individuals with a childhood cancer.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 2905, doi. 10.1002/ajmg.a.37850
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- Publication type:
- Article
Functional abilities in children and adults with the CDKL5 disorder.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 2860, doi. 10.1002/ajmg.a.37851
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- Publication type:
- Article
BRAT1-associated neurodegeneration: Intra-familial phenotypic differences in siblings.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 3033, doi. 10.1002/ajmg.a.37853
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- Publication type:
- Article
Syringomyelia in hereditary multiple exostosis.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 2956, doi. 10.1002/ajmg.a.37854
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- Publication type:
- Article
Recurrent chronic histiocytic intervillositis with intrauterine growth restriction, osteopenia, and fractures.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 2960, doi. 10.1002/ajmg.a.37856
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- Publication type:
- Article
Visceral myopathy: Clinical and molecular survey of a cohort of seven new patients and state of the art of overlapping phenotypes.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 2965, doi. 10.1002/ajmg.a.37857
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- Publication type:
- Article
Desbuquois dysplasia type II in a patient with a homozygous mutation in XYLT1 and new unusual findings.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 3043, doi. 10.1002/ajmg.a.37858
- By:
- Publication type:
- Article
Dr. Edward Lammer: A man of great stature.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 2769, doi. 10.1002/ajmg.a.37863
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- Publication type:
- Article
Remembering Edward J. Lammer, MD.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 2767, doi. 10.1002/ajmg.a.37865
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- Publication type:
- Article
Genetic variation of FOXE1 and risk for orofacial clefts in a California population.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 2770, doi. 10.1002/ajmg.a.37871
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- Publication type:
- Article
Malformations of the middle and inner ear on CT imaging in 22q11 deletion syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 2975, doi. 10.1002/ajmg.a.37872
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- Publication type:
- Article
Sequence variation in folate pathway genes and risks of human cleft lip with or without cleft palate.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 2777, doi. 10.1002/ajmg.a.37874
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- Publication type:
- Article
Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 2847, doi. 10.1002/ajmg.a.37878
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- Publication type:
- Article
Gene variants as risk factors for gastroschisis.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 2788, doi. 10.1002/ajmg.a.37883
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- Publication type:
- Article
Testing cell-free fetal DNA emerges as trisomy screen of choice.
- Published in:
- 2016
- Publication type:
- Other
In this issue.
- Published in:
- 2016
- Publication type:
- Other
Cover Image, Volume 170A, Number 11, November 2016.
- Published in:
- 2016
- Publication type:
- Other