Works matching IS 15524825 AND DT 2013 AND VI 161A AND IP 9
Results: 48
Trisomy 18p caused by a supernumerary marker with a chromosome 13/21 centromere: A possible recurrent chromosome aberration.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. 2363, doi. 10.1002/ajmg.a.36102
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A case of Toriello-Carey syndrome with severe congenital tracheal stenosis.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. 2291, doi. 10.1002/ajmg.a.35861
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Severe hypospadias and its association with maternal-placental factors.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. 2183, doi. 10.1002/ajmg.a.36050
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Expanding the spectrum of microdeletion 4q21 syndrome: A partial phenotype with incomplete deletion of the minimal critical region and a new association with cleft palate and pierre robin sequence.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. 2327, doi. 10.1002/ajmg.a.36061
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MLL2 and KDM6A mutations in patients with Kabuki syndrome.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. 2234, doi. 10.1002/ajmg.a.36072
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Late-onset partial complex seizures secondary to cortical dysplasia in a patient with maternal vitamin K deficient embryopathy: Comments on the article by Toriello et al. [2013] and first report of the natural history.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. 2396, doi. 10.1002/ajmg.a.36043
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Global Alliance to Create Standards For Sharing Genomic Data.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. xi, doi. 10.1002/ajmg.a.36168
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- Article
A distinct mitochondrial myopathy, lactic acidosis and sideroblastic anemia (MLASA) phenotype associates with YARS2 mutations.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. 2334, doi. 10.1002/ajmg.a.36065
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Deletion of 14.7 Mb 2q32.3q33.3 with a marfanoid phenotype and hypothyroidism.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. 2347, doi. 10.1002/ajmg.a.36076
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Angelman syndrome in Denmark. Birth incidence, genetic findings, and age at diagnosis.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. 2197, doi. 10.1002/ajmg.a.36058
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Three phone calls: A carrier's journey into motherhood.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. 2119, doi. 10.1002/ajmg.a.36112
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Non-lethal non-mosaic male with conradi-hunermann syndrome caused by a novel EBP c.356T>G mutation.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. 2385, doi. 10.1002/ajmg.a.35985
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Microdeletion 5q14.3 and anomalies of brain development.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. 2124, doi. 10.1002/ajmg.a.36020
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Snyder-Robinson syndrome: A novel nonsense mutation in spermine synthase and expansion of the phenotype.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. 2316, doi. 10.1002/ajmg.a.36116
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Homozygosity for the V37I GJB 2 mutation in fifteen probands with mild to moderate sensorineural hearing impairment: Further confirmation of pathogenicity and haplotype analysis in Asian populations.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. 2148, doi. 10.1002/ajmg.a.36042
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Table of Contents, Volume 161A, Number 9, September 2013.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. fm i, doi. 10.1002/ajmg.a.36196
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- Article
U.S. supreme court decision paves way for better genetic testing.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. ix, doi. 10.1002/ajmg.a.36167
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Erratum: In the article by Gene S. Fisch, entitled 'Nosology and Epidemiology in Autism: Classification Counts,' in. American Journal of Medical Genetics Part C (Seminars in Medical Genetics) 160C:91-103.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. 2399, doi. 10.1002/ajmg.a.36064
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Novel no-stop FLNA mutation causes multi-organ involvement in males.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. 2376, doi. 10.1002/ajmg.a.36109
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Learning and memory in children with Noonan syndrome.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. 2250, doi. 10.1002/ajmg.a.36075
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The phenotypic spectrum of duplication 5q35.2-q35.3 encompassing NSD1: Is it really a reversed sotos syndrome?
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. 2158, doi. 10.1002/ajmg.a.36046
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Molecular etiology of hearing impairment associated with nonsyndromic enlarged vestibular aqueduct in East China.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. 2226, doi. 10.1002/ajmg.a.36068
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A 47,XX,+der(21)t(8;21)(q24.2;q21.1) karyotype in a patient with mild intellectual disability, cleft lip, hashimoto thyroiditis and hirsutism.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. 2389, doi. 10.1002/ajmg.a.36039
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Endocrine abnormalities in townes-brocks syndrome.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. 2266, doi. 10.1002/ajmg.a.36104
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Pure duplication of 19p13.3.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. 2300, doi. 10.1002/ajmg.a.36041
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American Journal of Medical Genetics Part A: Volume 161A, Number 9, September 2013.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. C1, doi. 10.1002/ajmg.a.36195
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Adolescents and young adults with down syndrome presenting to a medical clinic with depression: Co-morbid obstructive sleep apnea.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. 2188, doi. 10.1002/ajmg.a.36052
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Duplication of the Xq27.3-q28 region, including the FMR1 gene, in an X-linked hypogonadism, gynecomastia, intellectual disability, short stature, and obesity syndrome.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. 2294, doi. 10.1002/ajmg.a.36034
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PECONPI: A novel software for uncovering pathogenic copy number variations in non-syndromic sensorineural hearing loss and other genetically heterogeneous disorders.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. 2134, doi. 10.1002/ajmg.a.36038
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Verbal memory functioning in adolescents and young adults with costello syndrome: Evidence for relative preservation in recognition memory.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. 2258, doi. 10.1002/ajmg.a.36078
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Targeted methylation testing of a patient cohort broadens the epigenetic and clinical description of imprinting disorders.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. 2174, doi. 10.1002/ajmg.a.36049
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Hospital Deliveries.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. 2122, doi. 10.1002/ajmg.a.36033
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Pre- and postnatal findings in a patient with a novel rec(8)dup(8q)inv(8)(p23.2q22.3) associated with san luis valley syndrome.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. 2369, doi. 10.1002/ajmg.a.36103
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Narrative medicine: A call to pens.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. 2117, doi. 10.1002/ajmg.a.36114
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Partial uniparental disomy with mosaic deletion 13q in an infant with multiple congenital anomalies.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. 2393, doi. 10.1002/ajmg.a.36040
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Possible autosomal recessive inheritance in an infant with acrofacial dysostosis similar to nager syndrome.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. 2311, doi. 10.1002/ajmg.a.36051
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Long-term follow-up of four patients with langer-giedion syndrome: Clinical course and complications.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. 2216, doi. 10.1002/ajmg.a.36062
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A 2.84 Mb deletion at 21q22.11 in a patient clinically diagnosed with marden-walker syndrome.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. 2281, doi. 10.1002/ajmg.a.35862
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Mutation of HES7 in a large extended family with spondylocostal dysostosis and dextrocardia with situs inversus.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. 2244, doi. 10.1002/ajmg.a.36073
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Missense mutations in FBN1 exons 41 and 42 cause Weill-Marchesani syndrome with thoracic aortic disease and Marfan syndrome.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. 2305, doi. 10.1002/ajmg.a.36044
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Small intragenic deletion in FOXP2 associated with childhood apraxia of speech and dysarthria.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. 2321, doi. 10.1002/ajmg.a.36055
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In this issue.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. xii, doi. 10.1002/ajmg.a.36169
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Further characterization of atypical features in auriculocondylar syndrome caused by recessive PLCB4 mutations.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. 2339, doi. 10.1002/ajmg.a.36066
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Second family with the boston-type craniosynostosis syndrome: Novel mutation and expansion of the clinical spectrum.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. 2352, doi. 10.1002/ajmg.a.36077
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Testosterone replacement therapy to improve secondary sexual characteristics and body composition without adverse behavioral problems in adult male patients with Prader-Willi syndrome: An observational study.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. 2167, doi. 10.1002/ajmg.a.36048
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Infantile mitochondrial hepatopathy is a cardinal feature of MEGDEL syndrome (3-Methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and leigh-Like Syndrome) caused by novel mutations in SERAC1.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. 2204, doi. 10.1002/ajmg.a.36059
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Segregation of a 4p16.3 duplication with a characteristic appearance, macrocephaly, speech delay and mild intellectual disability in a 3-generation family.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. 2358, doi. 10.1002/ajmg.a.36099
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Molecular basis of the clinical features of Al-Awadi-Raas-Rothschild (limb/pelvis/uterus-hypoplasia/aplasia) syndrome (AARRS) and Fuhrmann syndrome.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. 2274, doi. 10.1002/ajmg.a.35437
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