American Journal of Medical Genetics Part A: Vol 128A, No 3

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Biochemical diagnosis of Antley–Bixler syndrome by steroid analysis

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Congenital cataract, microphthalmia, hypoplasia of corpus callosum and hypogenitalism: Report and review of Micro syndrome

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MICRO syndrome: An entity distinct from COFS syndrome

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Perrault syndrome: Evidence for progressive nervous system involvement

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A new insight into fragile X syndrome among Basque population

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Polymorphisms in the methylenetetrahydrofolate reductase and methionine synthase reductase genes and homocysteine levels in Brazilian children

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Medical privacy and the disclosure of personal medical information: The beliefs and experiences of those with genetic and other clinical conditions

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Is cascade testing a sensible method of screening a population for autosomal recessive disorders?

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Phenotype and X inactivation in 45,X/46,X,r(X) cases

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Psychological impact of genetic testing for familial hypercholesterolemia within a previously aware population: A randomized controlled trial ^†

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Infant with severe penicillamine embryopathy born to a woman with Wilson disease

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Malignant degeneration of presacral teratoma in the Currarino anomaly

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Nonmosaic smallest duplication of 12q24.31-qter: The first reported case

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Interstitial deletion of chromosome 2q32-34 associated with multiple congenital anomalies and a urea cycle defect (CPS I deficiency)

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Oto-onycho-peroneal syndrome: Further delineation and first fetal report

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Severe lower limb defects in exstrophy of the cloaca

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Functional disomy of Xp including duplication of DAX1 gene with sex reversal due to t(X;Y)(p21.2;p11.3)

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A novel mutation of tumor necrosis factor receptor alpha type 1 associated with TRAPS and amyloidosis

American Journal of Medical Genetics Part A

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American Journal of Medical Genetics Part A: Volume 128A, Issue 3

Biochemical diagnosis of Antley–Bixler syndrome by steroid analysis

Congenital cataract, microphthalmia, hypoplasia of corpus callosum and hypogenitalism: Report and review of Micro syndrome

MICRO syndrome: An entity distinct from COFS syndrome

Perrault syndrome: Evidence for progressive nervous system involvement

A new insight into fragile X syndrome among Basque population

Polymorphisms in the methylenetetrahydrofolate reductase and methionine synthase reductase genes and homocysteine levels in Brazilian children

Medical privacy and the disclosure of personal medical information: The beliefs and experiences of those with genetic and other clinical conditions

Is cascade testing a sensible method of screening a population for autosomal recessive disorders?

Phenotype and X inactivation in 45,X/46,X,r(X) cases

Psychological impact of genetic testing for familial hypercholesterolemia within a previously aware population: A randomized controlled trial ^†

Infant with severe penicillamine embryopathy born to a woman with Wilson disease

Malignant degeneration of presacral teratoma in the Currarino anomaly

Nonmosaic smallest duplication of 12q24.31-qter: The first reported case

Interstitial deletion of chromosome 2q32-34 associated with multiple congenital anomalies and a urea cycle defect (CPS I deficiency)

Oto-onycho-peroneal syndrome: Further delineation and first fetal report

Severe lower limb defects in exstrophy of the cloaca

Functional disomy of Xp including duplication of DAX1 gene with sex reversal due to t(X;Y)(p21.2;p11.3)

A novel mutation of tumor necrosis factor receptor alpha type 1 associated with TRAPS and amyloidosis

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American Journal of Medical Genetics Part A

Journal list menu

Tools

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American Journal of Medical Genetics Part A: Volume 128A, Issue 3

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Biochemical diagnosis of Antley–Bixler syndrome by steroid analysis

Congenital cataract, microphthalmia, hypoplasia of corpus callosum and hypogenitalism: Report and review of Micro syndrome

MICRO syndrome: An entity distinct from COFS syndrome

Perrault syndrome: Evidence for progressive nervous system involvement

A new insight into fragile X syndrome among Basque population

Polymorphisms in the methylenetetrahydrofolate reductase and methionine synthase reductase genes and homocysteine levels in Brazilian children

Medical privacy and the disclosure of personal medical information: The beliefs and experiences of those with genetic and other clinical conditions

Is cascade testing a sensible method of screening a population for autosomal recessive disorders?

Phenotype and X inactivation in 45,X/46,X,r(X) cases

Psychological impact of genetic testing for familial hypercholesterolemia within a previously aware population: A randomized controlled trial†

Infant with severe penicillamine embryopathy born to a woman with Wilson disease

Malignant degeneration of presacral teratoma in the Currarino anomaly

Nonmosaic smallest duplication of 12q24.31-qter: The first reported case

Interstitial deletion of chromosome 2q32-34 associated with multiple congenital anomalies and a urea cycle defect (CPS I deficiency)

Oto-onycho-peroneal syndrome: Further delineation and first fetal report

Severe lower limb defects in exstrophy of the cloaca

Functional disomy of Xp including duplication of DAX1 gene with sex reversal due to t(X;Y)(p21.2;p11.3)

A novel mutation of tumor necrosis factor receptor alpha type 1 associated with TRAPS and amyloidosis

Tools

More from this journal

Psychological impact of genetic testing for familial hypercholesterolemia within a previously aware population: A randomized controlled trial ^†