Found: 51
Select item for more details and to access through your institution.
Screening of TGFBR 1, TGFBR 2, and FLNA in familial mitral valve prolapse.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 1, p. 113, doi. 10.1002/ajmg.a.36211
- By:
- Publication type:
- Article
Exome sequencing identifies a novel EP300 frame shift mutation in a patient with features that overlap cornelia de lange syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 1, p. 251, doi. 10.1002/ajmg.a.36237
- By:
- Publication type:
- Article
Refinement of the 8q22.1 microdeletion critical region associated with Nablus mask-like facial syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 1, p. 259, doi. 10.1002/ajmg.a.36163
- By:
- Publication type:
- Article
A case of 14q11.2 microdeletion with autistic features, severe obesity and facial dysmorphisms suggestive of Wolf-Hirschhorn syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 1, p. 190, doi. 10.1002/ajmg.a.36200
- By:
- Publication type:
- Article
Social conditions for people with Down syndrome: A register-based cohort study in Denmark.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 1, p. 36, doi. 10.1002/ajmg.a.36272
- By:
- Publication type:
- Article
Acute aortic dissections with pregnancy in women with ACTA 2 mutations.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 1, p. 106, doi. 10.1002/ajmg.a.36208
- By:
- Publication type:
- Article
X chromosome exome sequencing reveals a novel ALG 13 mutation in a nonsyndromic intellectual disability family with multiple affected male siblings.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 1, p. 164, doi. 10.1002/ajmg.a.36233
- By:
- Publication type:
- Article
In this issue.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 1, p. xii, doi. 10.1002/ajmg.a.36387
- Publication type:
- Article
Antenatal detection of maternal unipartental disomy of chromosome 2 in a fetus with non-chromosomal, non-syndromic alobar holoprosencephaly.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 1, p. 276, doi. 10.1002/ajmg.a.36204
- By:
- Publication type:
- Article
A new case of a LUMBAR syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 1, p. 204, doi. 10.1002/ajmg.a.36215
- By:
- Publication type:
- Article
Family history and clefting as major criteria for CHARGE syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 1, p. 48, doi. 10.1002/ajmg.a.36192
- By:
- Publication type:
- Article
ACVR 1 (587T>C) mutation in a variant form of fibrodysplasia ossificans progressiva: Second report.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 1, p. 220, doi. 10.1002/ajmg.a.36219
- By:
- Publication type:
- Article
A novel germline PIGA mutation in Ferro-Cerebro-Cutaneous syndrome: A neurodegenerative X-linked epileptic encephalopathy with systemic iron-overload.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 1, p. 17, doi. 10.1002/ajmg.a.36189
- By:
- Publication type:
- Article
Co-occurrence of hemiscrotal agenesis with cutis marmorata telangiectatica congenita and hydronephrosis affecting the same side of the body.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 1, p. 199, doi. 10.1002/ajmg.a.36210
- By:
- Publication type:
- Article
Variable approaches to genetic counseling for microarray regions of homozygosity associated with parental relatedness.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 1, p. 87, doi. 10.1002/ajmg.a.36206
- By:
- Publication type:
- Article
Prenatal genetic testing for a microdeletion at chromosome 14q32.2 imprinted region leading to UPD(14)pat-like phenotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 1, p. 264, doi. 10.1002/ajmg.a.36185
- By:
- Publication type:
- Article
Who should control genomic data?
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 1, p. x, doi. 10.1002/ajmg.a.36386
- Publication type:
- Article
Characterization of core clinical phenotypes associated with recurrent proximal 15q25.2 microdeletions.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 1, p. 77, doi. 10.1002/ajmg.a.36203
- By:
- Publication type:
- Article
Identification of a jumping translocation following pre-implantation genetic diagnosis.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 1, p. 279, doi. 10.1002/ajmg.a.36214
- By:
- Publication type:
- Article
Anxiety, attention problems, hyperactivity, and the Aberrant Behavior Checklist in fragile X syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 1, p. 141, doi. 10.1002/ajmg.a.36232
- By:
- Publication type:
- Article
A large-scale nationwide newborn screening program for pompe disease in Taiwan: Towards effective diagnosis and treatment.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 1, p. 54, doi. 10.1002/ajmg.a.36197
- By:
- Publication type:
- Article
Sanfilippo syndrome, glucose-6-phosphate dehydrogenase deficiency and sickle cell/β<sup>+</sup> thalassemia in a child: The burden of consanguinity.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 1, p. 267, doi. 10.1002/ajmg.a.36180
- By:
- Publication type:
- Article
Giant breast tumors in a patient with Beckwith-Wiedemann syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 1, p. 182, doi. 10.1002/ajmg.a.36191
- By:
- Publication type:
- Article
17p13.1 microdeletion: Genetic and clinical findings in a new patient with epilepsy and comparison with literature.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 1, p. 225, doi. 10.1002/ajmg.a.36225
- By:
- Publication type:
- Article
Suppression of severe achondroplasia with developmental delay and acanthosis nigricans by the p.Thr651Pro mutation.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 1, p. 243, doi. 10.1002/ajmg.a.36236
- By:
- Publication type:
- Article
Neurochemical evaluation of brain function with <sup>1</sup>H magnetic resonance spectroscopy in patients with fragile X syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 1, p. 99, doi. 10.1002/ajmg.a.36207
- By:
- Publication type:
- Article
Frequency of prenatal cytogenetic diagnosis and pregnancy outcomes by maternal race-ethnicity, and the effect on the prevalence of trisomy 21, Metropolitan Atlanta, 1996-2005.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 1, p. 70, doi. 10.1002/ajmg.a.36247
- By:
- Publication type:
- Article
CEP57 mutation in a girl with mosaic variegated aneuploidy syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 1, p. 177, doi. 10.1002/ajmg.a.36166
- By:
- Publication type:
- Article
Overgrowth syndrome associated with a gain-of-function mutation of the natriuretic peptide receptor 2 ( NPR2) gene.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 1, p. 156, doi. 10.1002/ajmg.a.36218
- By:
- Publication type:
- Article
Expanding the spectrum of phenotypes associated with germline PIGA mutations: A child with developmental delay, accelerated linear growth, facial dysmorphisms, elevated alkaline phosphatase, and progressive CNS abnormalities.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 1, p. 29, doi. 10.1002/ajmg.a.36184
- By:
- Publication type:
- Article
Duplication of exon 2 of the GPC3 gene in a case of Simpson-Golabi-Behmel syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 1, p. 282, doi. 10.1002/ajmg.a.36199
- By:
- Publication type:
- Article
Table of Contents, Volume 164A, Number 1, January 2014.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 1, p. fm i, doi. 10.1002/ajmg.a.36422
- Publication type:
- Article
A rural community's involvement in the design and usability testing of a computer-based informed consent process for the personalized medicine research project.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 1, p. 129, doi. 10.1002/ajmg.a.36220
- By:
- Publication type:
- Article
A fetus with de novo 2q33.2q35 deletion including MAP2 with brain anomalies, esophageal atresia, and laryngeal stenosis.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 1, p. 194, doi. 10.1002/ajmg.a.36202
- By:
- Publication type:
- Article
Whole-exome sequencing emerges as clinical diagnostic tool.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 1, p. ix, doi. 10.1002/ajmg.a.36385
- By:
- Publication type:
- Article
Invited editorial comment-the human phenotype of germline PIGA mutations.
- Published in:
- 2014
- By:
- Publication type:
- Editorial
Intellectual disability, coarse face, relative macrocephaly, and cerebellar hypotrophy in two sisters.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 1, p. 10, doi. 10.1002/ajmg.a.36235
- By:
- Publication type:
- Article
Aortic aneurysm and craniosynostosis in a family with Cantu syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 1, p. 231, doi. 10.1002/ajmg.a.36228
- By:
- Publication type:
- Article
A clinical study of patients with pericentromeric deletion and duplication within 16p12.2-p11.2.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 1, p. 213, doi. 10.1002/ajmg.a.36217
- By:
- Publication type:
- Article
Autosomal recessive stickler syndrome due to a loss of function mutation in the COL 9 A 3 gene.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 1, p. 42, doi. 10.1002/ajmg.a.36165
- By:
- Publication type:
- Article
Enamel-renal-gingival syndrome and FAM20A mutations.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 1, p. 1, doi. 10.1002/ajmg.a.36187
- By:
- Publication type:
- Article
Hemiconvulsion-hemiplegia-epilepsy syndrome with 1q44 microdeletion: Causal or chance association.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 1, p. 186, doi. 10.1002/ajmg.a.36198
- By:
- Publication type:
- Article
American Journal of Medical Genetics Part A: Volume 164A, Number 1, January 2014.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 1, p. C1, doi. 10.1002/ajmg.a.36421
- Publication type:
- Article
Novel interstitial 2.6 Mb deletion on 9q21 associated with multiple congenital anomalies.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 1, p. 237, doi. 10.1002/ajmg.a.36230
- By:
- Publication type:
- Article
Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicism.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 1, p. 120, doi. 10.1002/ajmg.a.36212
- By:
- Publication type:
- Article
Phenotypic and molecular characterization of 19q12q13.1 deletions: A report of five patients.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 1, p. 62, doi. 10.1002/ajmg.a.36201
- By:
- Publication type:
- Article
Next generation sequencing in nonsyndromic intellectual disability: From a negative molecular karyotype to a possible causative mutation detection.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 1, p. 170, doi. 10.1002/ajmg.a.36274
- By:
- Publication type:
- Article
A case of trisomy 18 with exacerbation of seizures triggered by administration of valproic acid.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 1, p. 285, doi. 10.1002/ajmg.a.36205
- By:
- Publication type:
- Article
Pathogenesis of congenital diaphragmatic hernia: Additional clues regarding the involvement of the endothelin system.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 1, p. 208, doi. 10.1002/ajmg.a.36216
- By:
- Publication type:
- Article
Trisomy 13 (Patau syndrome) and congenital heart defects.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 1, p. 272, doi. 10.1002/ajmg.a.36193
- By:
- Publication type:
- Article