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Homozygous Deletion of TRMT10A as Part of a Contiguous Gene Deletion in a Syndrome of Failure to Thrive, Delayed Puberty, Intellectual Disability, and Diabetes Mellitus.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 3167, doi. 10.1002/ajmg.a.37341
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- Article
A Recurrent Synonymous KAT6B Mutation Causes Say-Barber-Biesecker/Young-Simpson Syndrome by Inducing Aberrant Splicing.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 3006, doi. 10.1002/ajmg.a.37343
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- Article
Co-Occurrence of Hypertrophic Cardiomyopathy and Myeloproliferative Disorder in a Neonate with Noonan Syndrome Carrying Thr73Ile Mutation in PTPN11.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 3144, doi. 10.1002/ajmg.a.37295
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- Article
A Unique TBX5 Microdeletion with Microinsertion Detected in Patient with Holt-Oram Syndrome.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 3192, doi. 10.1002/ajmg.a.37359
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- Article
Atypical Williams Syndrome in an Infant with Complete Atrioventricular Canal Defect.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 3108, doi. 10.1002/ajmg.a.37288
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- Article
Duplication of 10q22.3-q23.3 Encompassing BMPR1A and NGR3 Associated with Congenital Heart Disease, Microcephaly, and Mild Intellectual Disability.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 3174, doi. 10.1002/ajmg.a.37347
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- Article
Familial Recurrences of FOXG1-Related Disorder: Evidence for Mosaicism.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 3096, doi. 10.1002/ajmg.a.37353
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- Article
Work Participation in Adults with Marfan Syndrome: Demographic Characteristics, MFS Related Health Symptoms, Chronic Pain, and Fatigue.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 3082, doi. 10.1002/ajmg.a.37370
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- Article
Paternal Duplication of the 11p15 Centromeric Imprinting Control Region Is Associated with Increased Expression of CDKN1C in a Child with Russell-Silver Syndrome.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 3229, doi. 10.1002/ajmg.a.37371
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- Article
Chronic Pain in Noonan Syndrome: A Previously Unreported but Common Symptom.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 2998, doi. 10.1002/ajmg.a.37337
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- Article
Congenital Anomalies Associated with Trisomy 18 or Trisomy 13: A Registry-Based Study in 16 European Countries, 2000-2011.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 3062, doi. 10.1002/ajmg.a.37355
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- Article
Severe CNS Involvement in WWOX Mutations: Description of Five New Cases.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 3209, doi. 10.1002/ajmg.a.37363
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- Article
NBAS Mutations Cause a Multisystem Disorder Involving Bone, Connective Tissue, Liver, Immune System, and Retina.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 2902, doi. 10.1002/ajmg.a.37338
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- Article
Myhre Syndrome: Clinical Features and Restrictive Cardiopulmonary Complications.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 2893, doi. 10.1002/ajmg.a.37273
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- Article
The Behavioral Characteristics of Sotos Syndrome.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 2945, doi. 10.1002/ajmg.a.37373
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- Article
Interstitial Microdeletions Including the Chromosome Band 4q13.2 and the UBA6 Gene as Possible Causes of Intellectual Disability and Behavior Disorder.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 3113, doi. 10.1002/ajmg.a.37291
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- Article
Identification of Disrupted AUTS2 and EPHA6 Genes by Array Painting in a Patient Carrying a De Novo Balanced Translocation t(3;7) with Intellectual Disability and Neurodevelopment Disorder.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 3031, doi. 10.1002/ajmg.a.37350
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- Article
RBBP8 Syndrome with Microcephaly, Intellectual Disability, Short Stature and Brachydactyly.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 3148, doi. 10.1002/ajmg.a.37299
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- Article
Female Patient with Autistic Disorder, Intellectual Disability, and Co-Morbid Anxiety Disorder: Expanding the Phenotype Associated with the Recurrent 3q13.2-q13.31 Microdeletion.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 3121, doi. 10.1002/ajmg.a.37292
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- Article
Femoral-Tibial-Digital Malformations in a Boy with the Japanese Founder Triplication of BHLHA9.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 3226, doi. 10.1002/ajmg.a.37290
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- Article
7q11.23 Duplication Syndrome: Physical Characteristics and Natural History.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 2916, doi. 10.1002/ajmg.a.37340
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- Article
Down Syndrome Birth Weight in England and Wales: Implications for Clinical Practice.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 3070, doi. 10.1002/ajmg.a.37366
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- Article
Dysspondyloenchondromatosis (DSC) Associated with COL2A1 Mutation: Clinical and Radiological Overlap with Spondyloepimetaphyseal Dysplasia-Strudwick Type (SEMD-S).
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 3103, doi. 10.1002/ajmg.a.37282
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- Article
Recurrent Duplications of 17q12 Associated with Variable Phenotypes.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 3038, doi. 10.1002/ajmg.a.37351
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- Article
Severe Congenital Neutropenia with Neurological Impairment Due to a Homozygous VPS45 p.E238K Mutation: A Case Report Suggesting a Genotype-Phenotype Correlation.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 3214, doi. 10.1002/ajmg.a.37367
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- Article
Clinical and Molecular Characterization of Seven Egyptian Families with Autosomal Recessive Robinow Syndrome: Identification of Four Novel ROR2 Gene Mutations.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 3054, doi. 10.1002/ajmg.a.37287
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IN THIS ISSUE.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. xi, doi. 10.1002/ajmg.a.37458
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- Article
11q24.2-25 Micro-Rearrangements in Autism Spectrum Disorders: Relation to Brain Structures.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 3019, doi. 10.1002/ajmg.a.37345
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- Article
Detection of Mutually Exclusive Mosaicism in a Girl with Genotype-Phenotype Discrepancies.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 3091, doi. 10.1002/ajmg.a.37261
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- Article
Phosphoglucomutase-1 Deficiency: Intrafamilial Clinical Variability and Common Secondary Adrenal Insufficiency.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 3139, doi. 10.1002/ajmg.a.37294
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- Article
Early-Onset Encephalopathy with Epilepsy Associated with a Novel Splice Site Mutation in SMC1A.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 3076, doi. 10.1002/ajmg.a.37364
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- Article
Beyond Ohdo Syndrome: A Familial Missense Mutation Broadens the MED12 Spectrum.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 3180, doi. 10.1002/ajmg.a.37354
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- Article
A Microdeletion Encompassing PHF21A in an Individual with Global Developmental Delay and Craniofacial Anomalies.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 3011, doi. 10.1002/ajmg.a.37344
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- Article
Association Between Kniest Dysplasia and Chondrosarcoma in a Child.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 3204, doi. 10.1002/ajmg.a.37361
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- Article
Expanding the Phenotype of Feingold Syndrome-2.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 3219, doi. 10.1002/ajmg.a.37368
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- Article
Report of a Patient with a Constitutional Missense Mutation in SMARCB1, Coffin-Siris Phenotype, and Schwannomatosis.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 3186, doi. 10.1002/ajmg.a.37356
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- Article
Rare Genomic Rearrangement in a Boy with Williams-Beuren Syndrome Associated to XYY Syndrome and Intriguing Behavior.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 3197, doi. 10.1002/ajmg.a.37360
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- Article
Bohring-Opitz Syndrome (BOS) with a New ASXL1 Pathogenic Variant: Review of the Most Prevalent Molecular and Phenotypic Features of the Syndrome.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 3161, doi. 10.1002/ajmg.a.37342
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- Article
Compound Heterozygous PKHD1 Variants Cause a Wide Spectrum of Ductal Plate Malformations.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 3046, doi. 10.1002/ajmg.a.37352
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- Article
Paternal Uniparental Disomy Chromosome 14-Like Syndrome due a Maternal De Novo 160 kb Deletion at the 14q32.2 Region Not Encompassing the IG- and the MEG3-DMRs: Patient Report and Genotype-Phenotype Correlation.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 3130, doi. 10.1002/ajmg.a.37293
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- Article
Exome Analysis of a Family with Wolff-Parkinson-White Syndrome Identifies a Novel Disease Locus.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 2975, doi. 10.1002/ajmg.a.37297
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- Article
PDZD7 and Hearing Loss: More Than Just a Modifier.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 2957, doi. 10.1002/ajmg.a.37274
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- Article
Nosology and Classification of Genetic Skeletal Disorders: 2015 Revision.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 2869, doi. 10.1002/ajmg.a.37365
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- Article
Clinical and Genetic Characteristics of Craniosynostosis in Hungary.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 2985, doi. 10.1002/ajmg.a.37298
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- Article
Autism Spectrum Disorder in Prader-Willi Syndrome: A Systematic Review.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 2936, doi. 10.1002/ajmg.a.37286
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- Article
The Effect of Genetic Test-Based Risk Information on Behavioral Outcomes: A Critical Examination of Failed Trials and a Call to Action.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 2913, doi. 10.1002/ajmg.a.37289
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- Article
Thyroid Nodules on Chest CT of Patients with Tuberous Sclerosis Complex.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 2992, doi. 10.1002/ajmg.a.37339
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- Article
Two Further Patients with the 1q24 Deletion Syndrome Expand the Phenotype: A Possible Role For the miR199-214 Cluster in the Skeletal Features of the Condition.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 3153, doi. 10.1002/ajmg.a.37336
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- Article
De Novo 9q Gain in an Infant with Tetralogy of Fallot with Absent Pulmonary Valve: Patient Report and Review of Congenital Heart Disease in 9q Duplication Syndrome.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 2966, doi. 10.1002/ajmg.a.37296
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- Article
SWEEPING CHANGES PROPOSED FOR "COMMON RULE".
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. viii, doi. 10.1002/ajmg.a.37456
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- Article