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Detection of Cryptic Fragile X Full Mutation Alleles by Southern Blot in a Female and Her Foetal DNA via Chorionic Villus Sampling, Complicated by Mosaicism for 45,X0/46,XX/47,XXX
Detection of Cryptic Fragile X Full Mutation Alleles by Southern Blot in a Female and Her Foetal DNA via Chorionic Villus Sampling, Complicated by Mosaicism for 45,X0/46,XX/47,XXX
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Detection of Cryptic Fragile X Full Mutation Alleles by Southern Blot in a Female and Her Foetal DNA via Chorionic Villus Sampling, Complicated by Mosaicism for 45,X0/46,XX/47,XXX

Pandelache, Alison ; Francis, David ; Oertel, Ralph ; Dickson, Rebecca ; Sachdev, Rani ; Ling, Ling ; Gamage, Dinusha ; Godler, David E.

Genes, 2021-06, Vol.12 (6), p.798 [Periódico revisado por pares]

Basel: MDPI AG

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2
Clinical and Molecular Differences between 4-Year-Old Monozygous Male Twins Mosaic for Normal, Premutation and Fragile X Full Mutation Alleles
Clinical and Molecular Differences between 4-Year-Old Monozygous Male Twins Mosaic for Normal, Premutation and Fragile X Full Mutation Alleles
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Clinical and Molecular Differences between 4-Year-Old Monozygous Male Twins Mosaic for Normal, Premutation and Fragile X Full Mutation Alleles

Pandelache, Alison ; Baker, Emma K ; Aliaga, Solange M ; Arpone, Marta ; Forbes, Robin ; Stark, Zornitza ; Francis, David ; Godler, David E

Genes, 2019-04, Vol.10 (4), p.279 [Periódico revisado por pares]

Switzerland: MDPI AG

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Paternal retraction of a fragile X allele to normal size, showing normal function over two generations
Paternal retraction of a fragile X allele to normal size, showing normal function over two generations
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Paternal retraction of a fragile X allele to normal size, showing normal function over two generations

Bartlett, Essra ; Archibald, Alison D. ; Francis, David ; Ling, Ling ; Thomas, Rob ; Chandler, Gabrielle ; Ward, Lisa ; O'Farrell, Gemma ; Pandelache, Alison ; Delatycki, Martin B. ; Bennetts, Bruce H. ; Ho, Gladys ; Fisk, Katrina ; Baker, Emma K. ; Amor, David J. ; Godler, David E.

American journal of medical genetics. Part A, 2022-01, Vol.188 (1), p.304-309 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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Detection of Cryptic Fragile X Full Mutation Alleles by Southern Blot in a Female and Her Foetal DNA via Chorionic Villus Sampling, Complicated by Mosaicism for 45,X0/46,XX/47,XXX
Detection of Cryptic Fragile X Full Mutation Alleles by Southern Blot in a Female and Her Foetal DNA via Chorionic Villus Sampling, Complicated by Mosaicism for 45,X0/46,XX/47,XXX
Material Type:
Report 		Adicionar ao Meu Espaço

Detection of Cryptic Fragile X Full Mutation Alleles by Southern Blot in a Female and Her Foetal DNA via Chorionic Villus Sampling, Complicated by Mosaicism for 45,X0/46,XX/47,XXX

Pandelache, Alison ; Francis, David ; Oertel, Ralph ; Dickson, Rebecca ; Sachdev, Rani ; Ling, Ling ; Gamage, Dinusha ; Godler, David E

Genes, 2021, Vol.12 (6)

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5
Paternal retraction of a fragile X allele to normal size, showing normal function over two generations
Paternal retraction of a fragile X allele to normal size, showing normal function over two generations
Material Type:
Report 		Adicionar ao Meu Espaço

Paternal retraction of a fragile X allele to normal size, showing normal function over two generations

Bartlett, Essra ; Archibald, Alison D ; Francis, David ; Ling, Ling ; Thomas, Rob ; Chandler, Gabrielle ; Ward, Lisa ; O'Farrell, Gemma ; Pandelache, Alison ; Delatycki, Martin B ; Bennetts, Bruce H ; Ho, Gladys ; Fisk, Katrina ; Baker, Emma K ; Amor, David J ; Godler, David E

American journal of medical genetics. Part A, 2022, Vol.188 (1), p.304-309

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