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FOXP1 mutations cause intellectual disability and a recognizable phenotype.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 3166, doi. 10.1002/ajmg.a.36174
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- Article
A patient with a unique frameshift mutation in GPC3, causing Simpson-Golabi-Behmel syndrome, presenting with craniosynostosis, penoscrotal hypospadias, and a large prostatic utricle.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 3121, doi. 10.1002/ajmg.a.36086
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The identification of MAFB mutations in eight patients with multicentric carpo-tarsal osteolysis supports genetic homogeneity but clinical variability.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 3023, doi. 10.1002/ajmg.a.36151
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Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 3063, doi. 10.1002/ajmg.a.36162
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Homozygosity for a novel truncating mutation confirms TBX15 deficiency as the cause of Cousin syndrome.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 3161, doi. 10.1002/ajmg.a.36173
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Management of hypogonadism in adolescent girls and adult women with Prader-Willi syndrome.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 3030, doi. 10.1002/ajmg.a.36152
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Multidisciplinary treatment of disability in ehlers-danlos syndrome hypermobility type/hypermobility syndrome: A pilot study using a combination of physical and cognitive-behavioral therapy on 12 women.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 3005, doi. 10.1002/ajmg.a.36060
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Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 2972, doi. 10.1002/ajmg.a.36229
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Microdeletions of 3p21.31 characterized by developmental delay, distinctive features, elevated serum creatine kinase levels, and white matter involvement.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 3049, doi. 10.1002/ajmg.a.36156
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The society of craniofacial genetics and developmental biology 35th annual meeting.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 2938, doi. 10.1002/ajmg.a.36053
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Expanding the genotype-phenotype correlation in subtelomeric 19p13.3 microdeletions using high resolution clinical chromosomal microarray analysis.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 2953, doi. 10.1002/ajmg.a.35886
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Evidence for replicative mechanism in a CHD7 rearrangement in a patient with CHARGE syndrome.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 3182, doi. 10.1002/ajmg.a.36178
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- Article
Endocrine phenotype of 6q16.1-q21 deletion involving SIM1 and Prader-Willi syndrome-like features.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 3137, doi. 10.1002/ajmg.a.36149
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- Article
Severe intellectual disability, West syndrome, Dandy-Walker malformation, and syndactyly in a patient with partial tetrasomy 17q25.3.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 3144, doi. 10.1002/ajmg.a.36155
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Partial trisomy 15q23 and partial monosomy 5p15.32: Case report and a literature review.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 3201, doi. 10.1002/ajmg.a.36150
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High-resolution analysis of copy number variants in adults with simple-to-moderate congenital heart disease.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 3087, doi. 10.1002/ajmg.a.36177
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JAG1 Mutation in a patient with deletion 22q11.2 syndrome and tetralogy of Fallot.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 3133, doi. 10.1002/ajmg.a.36148
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Ablepharon macrostomia syndrome: A distinct genetic entity clinically related to the group of FRAS-FREM complex disorders.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 3012, doi. 10.1002/ajmg.a.36119
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Congenital heart defects in oculodentodigital dysplasia: Report of two cases.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 3150, doi. 10.1002/ajmg.a.36159
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Ehlers-Danlos syndrome, hypermobility type: A characterization of the patients' lived experience.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 2981, doi. 10.1002/ajmg.a.36293
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A description of a fetal syndrome associated with HNF1B mutation and a wide intrafamilial disease variability.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 3191, doi. 10.1002/ajmg.a.36190
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Embryonic left-right separation mechanism allows confinement of mutation-induced phenotypes to one lateral body half of bilaterians.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 3095, doi. 10.1002/ajmg.a.36188
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More than meets the eye: The evolving phenotype of Weill-Marchesani syndrome-diagnostic confusion with geleophysic dysplasia.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 3126, doi. 10.1002/ajmg.a.36161
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Severe growth retardation, delayed bone age, and facial dysmorphism in two patients with microduplications in 2p16 → p22.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 3176, doi. 10.1002/ajmg.a.36176
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Next-generation sequencing may reduce cost and wait time for some genetic diagnoses: Experts argue that clinical evaluation remains crucial.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. vii, doi. 10.1002/ajmg.a.36349
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Neuromotor synapses in Escobar syndrome.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 3042, doi. 10.1002/ajmg.a.36154
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Similarity of geleophysic dysplasia and weill-marchesani syndrome.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 3130, doi. 10.1002/ajmg.a.36147
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Isolated truncus arteriosus associated with a mutation in the plexin-D1 gene.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 3115, doi. 10.1002/ajmg.a.36194
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'Whorl patterns on the lower lip are associated with nonsyndromic cleft lip with or without cleft palate' American Journal of Medical Genetics Part A, Volume 149A, Issue 12, pages 2673-2679, December 2009.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 3216, doi. 10.1002/ajmg.a.36158
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- Article
In this issue.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. x, doi. 10.1002/ajmg.a.36351
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- Article
Table of Contents, Volume 161A, Number 12, December 2013.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. fm i, doi. 10.1002/ajmg.a.36384
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- Article
Re-writing the natural history of pain and related symptoms in the joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 2989, doi. 10.1002/ajmg.a.36315
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Hereditary deletion of the entire FAM20C gene in a patient with Raine syndrome.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 3155, doi. 10.1002/ajmg.a.36160
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Non-immune hydrops fetalis: A prospective study of 53 cases.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 3078, doi. 10.1002/ajmg.a.36171
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Cognitive, sensory, and psychosocial characteristics in patients with Bardet-Biedl syndrome.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 2964, doi. 10.1002/ajmg.a.36245
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3q29 microdeletion syndrome: Cognitive and behavioral phenotype in four patients.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 3018, doi. 10.1002/ajmg.a.36142
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De novo 13q deletions in two patients with mild anorectal malformations as part of VATER/VACTERL and VATER/VACTERL-like association and analysis of EFNB2 in patients with anorectal malformations.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 3035, doi. 10.1002/ajmg.a.36153
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Familial ebstein anomaly, left ventricular hypertrabeculation, and ventricular septal defect associated with a MYH7 mutation.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 3187, doi. 10.1002/ajmg.a.36182
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Polysomnographic findings in infantile Pompe disease.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 3196, doi. 10.1002/ajmg.a.36227
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Severe congenital lipodystrophy and a progeroid appearance: Mutation in the penultimate exon of FBN1 causing a recognizable phenotype.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 3057, doi. 10.1002/ajmg.a.36157
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States stress newborn screening for home births: Initiatives emphasize education about the importance of bloodspot tests, hearing screens.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. viii, doi. 10.1002/ajmg.a.36350
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- Article
Pediatric glaucoma terminology.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 3205, doi. 10.1002/ajmg.a.35205
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American Journal of Medical Genetics Part A: Volume 161A, Number 12, December 2013.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. C1, doi. 10.1002/ajmg.a.36383
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- Article
Dysregulation of FOXG1 pathway in a 14q12 microdeletion case.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 3072, doi. 10.1002/ajmg.a.36170
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The AKT genes and their roles in various disorders.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 2931, doi. 10.1002/ajmg.a.36101
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- Article