Autism (with macrocephaly) (PTEN)

06 Oct 15

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Autism/Autism spectrum disorder (53 gene panel)

06 Oct 15

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Congenital bilateral absence of the vas deferens (CFTR)

06 Oct 15

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Spinal and bulbar muscular atrophy (Kennedy disease) (SBMA)

06 Oct 15

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Spinal muscular atrophy (SMA)

06 Oct 15

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Ataxia panel (ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7, ATXN8, ATXN10, PP2R2B, TBP, DRPLA)

06 Oct 15

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Spinocerebellar ataxia (types 1, 2, 3, 6, 7, 8, 10, 12, 17) (ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7, ATXN8, ATXN10, PP2R2B, TBP)

06 Oct 15

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Friedreich ataxia (FXN)

06 Oct 15

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Asperger syndrome

06 Oct 15

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ARX (aristaless related homeobox)

06 Oct 15

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Autism (with macrocephaly) (PTEN)

Autism/Autism spectrum disorder (53 gene panel)

Congenital bilateral absence of the vas deferens (CFTR)

Spinal and bulbar muscular atrophy (Kennedy disease) (SBMA)

Spinal muscular atrophy (SMA)

Ataxia panel (ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7, ATXN8, ATXN10, PP2R2B, TBP, DRPLA)

Spinocerebellar ataxia (types 1, 2, 3, 6, 7, 8, 10, 12, 17) (ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7, ATXN8, ATXN10, PP2R2B, TBP)

Friedreich ataxia (FXN)

Asperger syndrome

ARX (aristaless related homeobox)

Breaking News

Galeria

La mutación G202A, en hijo hemicigoto (arriba) y madre heterocigota (abajo). Esta mutación acompañada de la mutación A376G ó T968C definen la variante africana negativa.

Arriba se muestra el resultado de un niño hemicigoto para la variante africana negativa, caracterizada por las mutaciones A376G y G202A, y abajo de una niña heterocigota para la variante Mediterránea, definida por la mutación C563T.

The G202A mutation, in the hemizygous son (above) and heterozygous mother (below). This
mutation accompanied with the A376G mutation or T968C define the african negative variant.

Above the result of a hemizygous child with the african negative variant , characterized by
mutations A376G and G202A , and below a heterozygous girl with the mediterranean variant, defined by the C563T mutation

Breaking News

Galeria

La mutación G202A, en hijo hemicigoto (arriba) y madre heterocigota (abajo). Esta mutación acompañada de la mutación A376G ó T968C definen la variante africana negativa.

Arriba se muestra el resultado de un niño hemicigoto para la variante africana negativa, caracterizada por las mutaciones A376G y G202A, y abajo de una niña heterocigota para la variante Mediterránea, definida por la mutación C563T.

The G202A mutation, in the hemizygous son (above) and heterozygous mother (below). Thismutation accompanied with the A376G mutation or T968C define the african negative variant.

Above the result of a hemizygous child with the african negative variant , characterized bymutations A376G and G202A , and below a heterozygous girl with the mediterranean variant, defined by the C563T mutation

The G202A mutation, in the hemizygous son (above) and heterozygous mother (below). This
mutation accompanied with the A376G mutation or T968C define the african negative variant.

Above the result of a hemizygous child with the african negative variant , characterized by
mutations A376G and G202A , and below a heterozygous girl with the mediterranean variant, defined by the C563T mutation