American Journal of Medical Genetics Part A: Vol 138A, No 1

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A new syndrome of congenital generalized osteosclerosis and bilateral polymicrogyria

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A novel missense mutation in a C2 domain of OTOF results in autosomal recessive auditory neuropathy

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Duplication of Xq26.2–q27.1, including SOX3, in a mother and daughter with short stature and dyslalia

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Non-skewed X-inactivation may cause mental retardation in a female carrier of X-linked α-thalassemia/mental retardation syndrome (ATR-X): X-inactivation study of nine female carriers of ATR-X

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Risks of human conotruncal heart defects associated with 32 single nucleotide polymorphisms of selected cardiovascular disease-related genes

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Precocious sister chromatid separation (PSCS) in Cornelia de Lange syndrome

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No evidence for triallelic inheritance of MKKS/BBS loci in Amish Mckusick–Kaufman syndrome ^†

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The natural history of severe anemia in cartilage-hair hypoplasia

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Brachydactylic multiple delta phalanges plus syndrome

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Bifurcation of the femur with tibial agenesis and additional anomalies

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Cryptic duplication and deletion of 9q34.3 → qter in a family with a t(9;22)(q34.3;p11.2)

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Recognition of Smith–Lemli–Opitz syndrome (RSH) in the fetus: Utility of ultrasonography and biochemical analysis in pregnancies with low maternal serum estriol

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Prenatal death in Smith–Lemli–Opitz/RSH syndrome

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Analysis of RPS19 in patients with cartilage-hair hypoplasia and severe anemia: Preliminary results

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Chromosome 1q42 deletion and agenesis of the corpus callosum

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A novel in-frame deletion in ARX is associated with lissencephaly with absent corpus callosum and hypoplastic genitalia

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Demonstration of two novel LAMB2 mutations in the original Pierson syndrome family reported 42 years ago

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Probable identity-by-descent for a mutation in the Dyggve–Melchior–Clausen/Smith–McCort dysplasia (Dymeclin) gene among patients from Guam, Chile, Argentina, and Spain

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Book review

American Journal of Medical Genetics Part A

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American Journal of Medical Genetics Part A: Volume 138A, Issue 1

A new syndrome of congenital generalized osteosclerosis and bilateral polymicrogyria

A novel missense mutation in a C2 domain of OTOF results in autosomal recessive auditory neuropathy

Duplication of Xq26.2–q27.1, including SOX3, in a mother and daughter with short stature and dyslalia

Non-skewed X-inactivation may cause mental retardation in a female carrier of X-linked α-thalassemia/mental retardation syndrome (ATR-X): X-inactivation study of nine female carriers of ATR-X

Risks of human conotruncal heart defects associated with 32 single nucleotide polymorphisms of selected cardiovascular disease-related genes

Precocious sister chromatid separation (PSCS) in Cornelia de Lange syndrome

No evidence for triallelic inheritance of MKKS/BBS loci in Amish Mckusick–Kaufman syndrome ^†

The natural history of severe anemia in cartilage-hair hypoplasia

Brachydactylic multiple delta phalanges plus syndrome

Bifurcation of the femur with tibial agenesis and additional anomalies

Cryptic duplication and deletion of 9q34.3 → qter in a family with a t(9;22)(q34.3;p11.2)

Recognition of Smith–Lemli–Opitz syndrome (RSH) in the fetus: Utility of ultrasonography and biochemical analysis in pregnancies with low maternal serum estriol

Prenatal death in Smith–Lemli–Opitz/RSH syndrome

Analysis of RPS19 in patients with cartilage-hair hypoplasia and severe anemia: Preliminary results

Chromosome 1q42 deletion and agenesis of the corpus callosum

A novel in-frame deletion in ARX is associated with lissencephaly with absent corpus callosum and hypoplastic genitalia

Demonstration of two novel LAMB2 mutations in the original Pierson syndrome family reported 42 years ago

Probable identity-by-descent for a mutation in the Dyggve–Melchior–Clausen/Smith–McCort dysplasia (Dymeclin) gene among patients from Guam, Chile, Argentina, and Spain

Book review

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American Journal of Medical Genetics Part A

Journal list menu

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Follow journal

American Journal of Medical Genetics Part A: Volume 138A, Issue 1

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A new syndrome of congenital generalized osteosclerosis and bilateral polymicrogyria

A novel missense mutation in a C2 domain of OTOF results in autosomal recessive auditory neuropathy

Duplication of Xq26.2–q27.1, including SOX3, in a mother and daughter with short stature and dyslalia

Non-skewed X-inactivation may cause mental retardation in a female carrier of X-linked α-thalassemia/mental retardation syndrome (ATR-X): X-inactivation study of nine female carriers of ATR-X

Risks of human conotruncal heart defects associated with 32 single nucleotide polymorphisms of selected cardiovascular disease-related genes

Precocious sister chromatid separation (PSCS) in Cornelia de Lange syndrome

No evidence for triallelic inheritance of MKKS/BBS loci in Amish Mckusick–Kaufman syndrome†

The natural history of severe anemia in cartilage-hair hypoplasia

Brachydactylic multiple delta phalanges plus syndrome

Bifurcation of the femur with tibial agenesis and additional anomalies

Cryptic duplication and deletion of 9q34.3 → qter in a family with a t(9;22)(q34.3;p11.2)

Recognition of Smith–Lemli–Opitz syndrome (RSH) in the fetus: Utility of ultrasonography and biochemical analysis in pregnancies with low maternal serum estriol

Prenatal death in Smith–Lemli–Opitz/RSH syndrome

Analysis of RPS19 in patients with cartilage-hair hypoplasia and severe anemia: Preliminary results

Chromosome 1q42 deletion and agenesis of the corpus callosum

A novel in-frame deletion in ARX is associated with lissencephaly with absent corpus callosum and hypoplastic genitalia

Demonstration of two novel LAMB2 mutations in the original Pierson syndrome family reported 42 years ago

Probable identity-by-descent for a mutation in the Dyggve–Melchior–Clausen/Smith–McCort dysplasia (Dymeclin) gene among patients from Guam, Chile, Argentina, and Spain

Book review

Tools

More from this journal

No evidence for triallelic inheritance of MKKS/BBS loci in Amish Mckusick–Kaufman syndrome ^†