American Journal of Medical Genetics Part A: Vol 140A, No 4

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Dwarfs in ancient Egypt

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Andersen-Tawil syndrome: Prospective cohort analysis and expansion of the phenotype

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Manifestations in a family with autosomal dominant bone fragility and limb-girdle myopathy

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18q deletions: Clinical, molecular, and brain MRI findings of 14 individuals

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Schimke immuno-osseous dysplasia: A cell autonomous disorder?^†

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A microdeletion in Xp11.3 accounts for co-segregation of retinitis pigmentosa and mental retardation in a large kindred

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Monoallelic BUB1B mutations and defective mitotic-spindle checkpoint in seven families with premature chromatid separation (PCS) syndrome

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Familial congenital non-immune hydrops, chylothorax, and pulmonary lymphangiectasia

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Narrowing candidate region for monosomy 9p syndrome to a 4.7-Mb segment at 9p22.2-p23

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Association of Jacobsen syndrome and bipolar affective disorder in a patient with a de novo 11q terminal deletion ^†^‡

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Shprintzen–Goldberg omphalocele syndrome: A new patient with an expanded phenotype

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Novel clinical features in a child with partial deletion of chromosome 11 [del(11)(q24.2)]: Further evidence for phenotypic heterogeneity

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Karyotype–phenotype analysis and molecular delineation of a 3p26 deletion/8q24.3 duplication case with a virtually normal phenotype and mild cognitive deficit

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A novel mutation in the gene encoding TIMM8a, a component of the mitochondrial protein translocase complexes, in a Spanish familial case of deafness-dystonia (Mohr–Tranebjaerg) syndrome

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Cleidocranial dysplasia plus vascular anomalies with 6p21.2 microdeletion spanning RUNX2 and VEGF

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A subterminal deletion of the long arm of chromosome 10: A clinical report and review

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The use of inappropriate, demeaning, and pejorative terminology to describe syndromes

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Response to Feingold's: The use of inappropriate, demeaning, and perjorative terminology to describe syndromes

American Journal of Medical Genetics Part A

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American Journal of Medical Genetics Part A: Volume 140A, Issue 4

Dwarfs in ancient Egypt

Andersen-Tawil syndrome: Prospective cohort analysis and expansion of the phenotype

Manifestations in a family with autosomal dominant bone fragility and limb-girdle myopathy

18q deletions: Clinical, molecular, and brain MRI findings of 14 individuals

Schimke immuno-osseous dysplasia: A cell autonomous disorder?^†

A microdeletion in Xp11.3 accounts for co-segregation of retinitis pigmentosa and mental retardation in a large kindred

Monoallelic BUB1B mutations and defective mitotic-spindle checkpoint in seven families with premature chromatid separation (PCS) syndrome

Familial congenital non-immune hydrops, chylothorax, and pulmonary lymphangiectasia

Narrowing candidate region for monosomy 9p syndrome to a 4.7-Mb segment at 9p22.2-p23

Association of Jacobsen syndrome and bipolar affective disorder in a patient with a de novo 11q terminal deletion ^†^‡

Shprintzen–Goldberg omphalocele syndrome: A new patient with an expanded phenotype

Novel clinical features in a child with partial deletion of chromosome 11 [del(11)(q24.2)]: Further evidence for phenotypic heterogeneity

Karyotype–phenotype analysis and molecular delineation of a 3p26 deletion/8q24.3 duplication case with a virtually normal phenotype and mild cognitive deficit

A novel mutation in the gene encoding TIMM8a, a component of the mitochondrial protein translocase complexes, in a Spanish familial case of deafness-dystonia (Mohr–Tranebjaerg) syndrome

Cleidocranial dysplasia plus vascular anomalies with 6p21.2 microdeletion spanning RUNX2 and VEGF

A subterminal deletion of the long arm of chromosome 10: A clinical report and review

The use of inappropriate, demeaning, and pejorative terminology to describe syndromes

Response to Feingold's: The use of inappropriate, demeaning, and perjorative terminology to describe syndromes

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American Journal of Medical Genetics Part A

Journal list menu

Tools

Follow journal

American Journal of Medical Genetics Part A: Volume 140A, Issue 4

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Dwarfs in ancient Egypt

Andersen-Tawil syndrome: Prospective cohort analysis and expansion of the phenotype

Manifestations in a family with autosomal dominant bone fragility and limb-girdle myopathy

18q deletions: Clinical, molecular, and brain MRI findings of 14 individuals

Schimke immuno-osseous dysplasia: A cell autonomous disorder?†

A microdeletion in Xp11.3 accounts for co-segregation of retinitis pigmentosa and mental retardation in a large kindred

Monoallelic BUB1B mutations and defective mitotic-spindle checkpoint in seven families with premature chromatid separation (PCS) syndrome

Familial congenital non-immune hydrops, chylothorax, and pulmonary lymphangiectasia

Narrowing candidate region for monosomy 9p syndrome to a 4.7-Mb segment at 9p22.2-p23

Association of Jacobsen syndrome and bipolar affective disorder in a patient with a de novo 11q terminal deletion†‡

Shprintzen–Goldberg omphalocele syndrome: A new patient with an expanded phenotype

Novel clinical features in a child with partial deletion of chromosome 11 [del(11)(q24.2)]: Further evidence for phenotypic heterogeneity

Karyotype–phenotype analysis and molecular delineation of a 3p26 deletion/8q24.3 duplication case with a virtually normal phenotype and mild cognitive deficit

A novel mutation in the gene encoding TIMM8a, a component of the mitochondrial protein translocase complexes, in a Spanish familial case of deafness-dystonia (Mohr–Tranebjaerg) syndrome

Cleidocranial dysplasia plus vascular anomalies with 6p21.2 microdeletion spanning RUNX2 and VEGF

A subterminal deletion of the long arm of chromosome 10: A clinical report and review

The use of inappropriate, demeaning, and pejorative terminology to describe syndromes

Response to Feingold's: The use of inappropriate, demeaning, and perjorative terminology to describe syndromes

Tools

More from this journal

Schimke immuno-osseous dysplasia: A cell autonomous disorder?^†

Association of Jacobsen syndrome and bipolar affective disorder in a patient with a de novo 11q terminal deletion ^†^‡