American Journal of Medical Genetics: Vol 80, No 2

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Double missense mutation in exon 41 of the human dystrophin gene detected by double strand conformation analysis

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An adult with 49,XYYYY karyotype: Case report and endocrine studies

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Kenny-Caffey syndrome and microorchidism

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Duplication 6q21q23 in two unrelated patients

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Heterozygous glycine substitution in the COL11A2 gene in the original patient with the Weissenbacher-Zweymüller syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome)

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Correlation of linkage data with phenotype in eight families with Stickler syndrome

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Familial growth hormone deficiency associated with MRI abnormalities

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Partial trisomy of chromosome 6q: An interstitial duplication of the long arm

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Autosomal recessive microcephaly with neonatal myoclonic seizures: Clinical and MRI findings

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Implications of a novel cryptic splice site in the BRCA1 gene

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FG syndrome: Report of three new families with linkage to xq12-q22.1

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Ebstein anomaly associated with rearrangements of chromosomal region 11q

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Noonan syndrome and aortic coarctation

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Boy with an interstitial 1q (q31q41) duplication confirmed by fluorescent in situ hybridisation

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Congenital heart defect in sibs with discordant karyotypes

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Biochemical and clinical studies in Libyan Jewish cystinuria patients and their relatives

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Congenital corneal dystrophy and progressive sensorineural hearing loss (Harboyan syndrome)

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Liver abnormalities and portal hypertension in Ullrich-Turner syndrome

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Carney complex: Diagnosis and management of the complex of spotty skin pigmentation, myxomas, endocrine overactivity, and schwannomas

American Journal of Medical Genetics

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American Journal of Medical Genetics: Volume 80, Issue 2

Double missense mutation in exon 41 of the human dystrophin gene detected by double strand conformation analysis

An adult with 49,XYYYY karyotype: Case report and endocrine studies

Kenny-Caffey syndrome and microorchidism

Duplication 6q21q23 in two unrelated patients

Heterozygous glycine substitution in the COL11A2 gene in the original patient with the Weissenbacher-Zweymüller syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome)

Correlation of linkage data with phenotype in eight families with Stickler syndrome

Familial growth hormone deficiency associated with MRI abnormalities

Partial trisomy of chromosome 6q: An interstitial duplication of the long arm

Autosomal recessive microcephaly with neonatal myoclonic seizures: Clinical and MRI findings

Implications of a novel cryptic splice site in the BRCA1 gene

FG syndrome: Report of three new families with linkage to xq12-q22.1

Ebstein anomaly associated with rearrangements of chromosomal region 11q

Noonan syndrome and aortic coarctation

Boy with an interstitial 1q (q31q41) duplication confirmed by fluorescent in situ hybridisation

Congenital heart defect in sibs with discordant karyotypes

Biochemical and clinical studies in Libyan Jewish cystinuria patients and their relatives

Congenital corneal dystrophy and progressive sensorineural hearing loss (Harboyan syndrome)

Liver abnormalities and portal hypertension in Ullrich-Turner syndrome

Carney complex: Diagnosis and management of the complex of spotty skin pigmentation, myxomas, endocrine overactivity, and schwannomas

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American Journal of Medical Genetics

Journal list menu

Tools

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American Journal of Medical Genetics: Volume 80, Issue 2

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Double missense mutation in exon 41 of the human dystrophin gene detected by double strand conformation analysis

An adult with 49,XYYYY karyotype: Case report and endocrine studies

Kenny-Caffey syndrome and microorchidism

Duplication 6q21q23 in two unrelated patients

Heterozygous glycine substitution in the COL11A2 gene in the original patient with the Weissenbacher-Zweymüller syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome)

Correlation of linkage data with phenotype in eight families with Stickler syndrome

Familial growth hormone deficiency associated with MRI abnormalities

Partial trisomy of chromosome 6q: An interstitial duplication of the long arm

Autosomal recessive microcephaly with neonatal myoclonic seizures: Clinical and MRI findings

Implications of a novel cryptic splice site in the BRCA1 gene

FG syndrome: Report of three new families with linkage to xq12-q22.1

Ebstein anomaly associated with rearrangements of chromosomal region 11q

Noonan syndrome and aortic coarctation

Boy with an interstitial 1q (q31q41) duplication confirmed by fluorescent in situ hybridisation

Congenital heart defect in sibs with discordant karyotypes

Biochemical and clinical studies in Libyan Jewish cystinuria patients and their relatives

Congenital corneal dystrophy and progressive sensorineural hearing loss (Harboyan syndrome)

Liver abnormalities and portal hypertension in Ullrich-Turner syndrome

Carney complex: Diagnosis and management of the complex of spotty skin pigmentation, myxomas, endocrine overactivity, and schwannomas

Tools

More from this journal