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Homozygosity for a novel deletion downstream of the SHOX gene provides evidence for an additional long range regulatory region with a mild phenotypic effect
Homozygosity for a novel deletion downstream of the SHOX gene provides evidence for an additional long range regulatory region with a mild phenotypic effect
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Homozygosity for a novel deletion downstream of the SHOX gene provides evidence for an additional long range regulatory region with a mild phenotypic effect

Bunyan, David J. ; Taylor, Emma-Jane ; Maloney, Vivienne K. ; Blyth, Moira

American journal of medical genetics. Part A, 2014-11, Vol.164A (11), p.2764-2768 [Periódico revisado por pares]

United States: Blackwell Publishing Ltd

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2
Cerebro-costo-mandibular syndrome: Clinical, radiological, and genetic findings
Cerebro-costo-mandibular syndrome: Clinical, radiological, and genetic findings
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Cerebro-costo-mandibular syndrome: Clinical, radiological, and genetic findings

Tooley, Madeleine ; Lynch, Danielle ; Bernier, Francois ; Parboosingh, Jillian ; Bhoj, Elizabeth ; Zackai, Elaine ; Calder, Alistair ; Itasaki, Nobue ; Wakeling, Emma ; Scott, Richard ; Lees, Melissa ; Clayton-Smith, Jill ; Blyth, Moira ; Morton, Jenny ; Shears, Debbie ; Kini, Usha ; Homfray, Tessa ; Clarke, Angus ; Barnicoat, Angela ; Wallis, Colin ; Hewitson, Rebecca ; Offiah, Amaka ; Saunders, Michael ; Langton-Hewer, Simon ; Hilliard, Tom ; Davis, Peter ; Smithson, Sarah

American journal of medical genetics. Part A, 2016-05, Vol.170A (5), p.1115-1126 [Periódico revisado por pares]

United States: Blackwell Publishing Ltd

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3
Severe Marfan syndrome due to FBN1 exon deletions
Severe Marfan syndrome due to FBN1 exon deletions
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Severe Marfan syndrome due to FBN1 exon deletions

Blyth, Moira ; Foulds, Nicola ; Turner, Claire ; Bunyan, David

American journal of medical genetics. Part A, 2008-05, Vol.146A (10), p.1320-1324 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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4
Cover Image, Volume 170A, Number 5, May 2016
Cover Image, Volume 170A, Number 5, May 2016
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Cover Image, Volume 170A, Number 5, May 2016

Tooley, Madeleine ; Lynch, Danielle ; Bernier, Francois ; Parboosingh, Jillian ; Bhoj, Elizabeth ; Zackai, Elaine ; Calder, Alistair ; Itasaki, Nobue ; Wakeling, Emma ; Scott, Richard ; Lees, Melissa ; Clayton-Smith, Jill ; Blyth, Moira ; Morton, Jenny ; Shears, Debbie ; Kini, Usha ; Homfray, Tessa ; Clarke, Angus ; Barnicoat, Angela ; Wallis, Colin ; Hewitson, Rebecca ; Offiah, Amaka ; Saunders, Michael ; Langton-Hewer, Simon ; Hilliard, Tom ; Davis, Peter ; Smithson, Sarah

American journal of medical genetics. Part A, 2016-05, Vol.170A (5), p.i-i [Periódico revisado por pares]

Blackwell Publishing Ltd

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5
A novel 2.43 Mb deletion of 7q11.22–q11.23
A novel 2.43 Mb deletion of 7q11.22–q11.23
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A novel 2.43 Mb deletion of 7q11.22–q11.23

Blyth, Moira ; Beal, Sarah ; Huang, Shuwen ; Crolla, John ; Foulds, Nicola

American journal of medical genetics. Part A, 2008-12, Vol.146A (24), p.3206-3210 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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6
A Novel 2.43 Mb Deletion of 7qll.22-qll.23
A Novel 2.43 Mb Deletion of 7qll.22-qll.23
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A Novel 2.43 Mb Deletion of 7qll.22-qll.23

BLYTH, Moira ; BEAL, Sarah ; SHUWEN HUANG ; CROLLA, John ; FOULDS, Nicola

American journal of medical genetics. Part A, 2008, Vol.146 (24), p.3206-3210 [Periódico revisado por pares]

Chichester: Wiley-Liss

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