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Human Mutation Volume 22 Issue 1

2013
- Volume 34
2012
- Volume 33
2011
- Volume 32
2010
- Volume 31
2009
- Volume 30
2008
- Volume 29
2007
- Volume 28
2006
- Volume 27
2005
- Volume 26
- Volume 25
2004
- Volume 24
- Volume 23
2003
- Volume 22
- Volume 21
2002
- Volume 20
- Volume 19
2001
- Volume 18
- Volume 17
2000
- Volume 16
- Volume 15
1999
- Volume 14
- Volume 13
1998
- Volume 12
- Volume 11
1997
- Volume 10
- Volume 9
1996
- Volume 8
- Volume 7
1995
- Volume 6
- Volume 5
1994
- Volume 4
- Volume 3
1993
- Volume 2
1992
- Volume 1

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The molecular basis of glutamate formiminotransferase deficiency

Hilton, John F.; Christensen, Karen E.; Watkins, David; Raby, Benjamin A.; Renaud, Yannick; de la Luna, Susanna; Estivill, Xavier; MacKenzie, Robert E.; Hudson, Thomas J.; Rosenblatt, David S.

Follow Human Mutation , Volume 22 (1) Wiley – Jul 1, 2003
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Prion susceptibility and protective alleles exhibit marked geographic differences

Soldevila, Marta; Calafell, Francesc; Andrés, Aida M.; Yagüe, Jordi; Helgason, Agnar; Stefánsson, Kári; Bertranpetit, Jaume

Follow Human Mutation , Volume 22 (1) Wiley – Jul 1, 2003
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A specific GFP expression assay, penetrance estimate, and histological assessment for a putative splice site mutation in BRCA1

Southey, M.C.; Tesoriero, A.; Young, M.A.; Holloway, A. J.; Jenkins, M.A.; Whitty, J.; Misfud, S.; kConFab, S.; McLachlan, S.A.; Venter, D.J.; Armes, J.E.

Follow Human Mutation , Volume 22 (1) Wiley – Jul 1, 2003
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Screening for large rearrangements of the BRCA1 gene in German breast or ovarian cancer families using semi‐quantitative multiplex PCR method

Hofmann, Wera; Görgens, Heike; John, Anika; Horn, Denise; Hüttner, Christine; Arnold, Norbert; Scherneck, Siegfried; Schackert, Hans K.

Follow Human Mutation , Volume 22 (1) Wiley – Jul 1, 2003
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Comparison of the CFTR mutation spectrum in three cohorts of patients of Celtic origin from Brittany (France) and Ireland

Scotet, Virginie; Barton, David E.; Watson, James B.G.; Audrézet, Marie‐Pierre; McDevitt, Trudi; McQuaid, Shirley; Shortt, Cathy; Braekeleer, Marc De; Férec, Claude; Maréchal, Cédric Le

Follow Human Mutation , Volume 22 (1) Wiley – Jul 1, 2003
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Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl‐CoA dehydrogenation deficiency

Olsen, Rikke K.J.; Andresen, Brage S.; Christensen, Ernst; Bross, Peter; Skovby, Flemming; Gregersen, Niels

Follow Human Mutation , Volume 22 (1) Wiley – Jul 1, 2003
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Spectrum of CLN6 mutations in variant late infantile neuronal ceroid lipofuscinosis

Sharp, Julie D.; Wheeler, Ruth B.; Parker, Keith A.; Gardiner, R. Mark; Williams, Ruth E.; Mole, Sara E.

Follow Human Mutation , Volume 22 (1) Wiley – Jul 1, 2003
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Spectrum of CBS mutations in 16 homocystinuric patients from the Iberian Peninsula: High prevalence of T191M and absence of I278T or G307S

Urreizti, Roser; Balcells, Susana; Rodés, Marga; Vilarinho, Laura; Baldellou, Antonio; Luz Couce, María; Muñoz, Carmen; Campistol, Jaume; Pintó, Xavier; Antonia Vilaseca, María; Grinberg, Daniel

Follow Human Mutation , Volume 22 (1) Wiley – Jul 1, 2003
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Determination of SMN1 and SMN2 copy number using TaqMan™ technology

Anhuf, Dirk; Eggermann, Thomas; Rudnik‐Schöneborn, Sabine; Zerres, Klaus

Follow Human Mutation , Volume 22 (1) Wiley – Jul 1, 2003
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Epigenetic detection of human chromosome 14 uniparental disomy

Murphy, S.K.; Wylie, A.A.; Coveler, K.J.; Cotter, P.D.; Papenhausen, P.R.; Sutton, V.R.; Shaffer, L.G.; Jirtle, R.L.

Follow Human Mutation , Volume 22 (1) Wiley – Jul 1, 2003

Human Mutation Volume 22 Issue 1

The molecular basis of glutamate formiminotransferase deficiency

Hilton, John F.; Christensen, Karen E.; Watkins, David; Raby, Benjamin A.; Renaud, Yannick; de la Luna, Susanna; Estivill, Xavier; MacKenzie, Robert E.; Hudson, Thomas J.; Rosenblatt, David S.

Follow Human Mutation , Volume 22 (1) Wiley – Jul 1, 2003

Prion susceptibility and protective alleles exhibit marked geographic differences

Soldevila, Marta; Calafell, Francesc; Andrés, Aida M.; Yagüe, Jordi; Helgason, Agnar; Stefánsson, Kári; Bertranpetit, Jaume

Follow Human Mutation , Volume 22 (1) Wiley – Jul 1, 2003

A specific GFP expression assay, penetrance estimate, and histological assessment for a putative splice site mutation in BRCA1

Southey, M.C.; Tesoriero, A.; Young, M.A.; Holloway, A. J.; Jenkins, M.A.; Whitty, J.; Misfud, S.; kConFab, S.; McLachlan, S.A.; Venter, D.J.; Armes, J.E.

Follow Human Mutation , Volume 22 (1) Wiley – Jul 1, 2003

Screening for large rearrangements of the BRCA1 gene in German breast or ovarian cancer families using semi‐quantitative multiplex PCR method

Hofmann, Wera; Görgens, Heike; John, Anika; Horn, Denise; Hüttner, Christine; Arnold, Norbert; Scherneck, Siegfried; Schackert, Hans K.

Follow Human Mutation , Volume 22 (1) Wiley – Jul 1, 2003

Comparison of the CFTR mutation spectrum in three cohorts of patients of Celtic origin from Brittany (France) and Ireland

Scotet, Virginie; Barton, David E.; Watson, James B.G.; Audrézet, Marie‐Pierre; McDevitt, Trudi; McQuaid, Shirley; Shortt, Cathy; Braekeleer, Marc De; Férec, Claude; Maréchal, Cédric Le

Follow Human Mutation , Volume 22 (1) Wiley – Jul 1, 2003

Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl‐CoA dehydrogenation deficiency

Olsen, Rikke K.J.; Andresen, Brage S.; Christensen, Ernst; Bross, Peter; Skovby, Flemming; Gregersen, Niels

Follow Human Mutation , Volume 22 (1) Wiley – Jul 1, 2003

Spectrum of CLN6 mutations in variant late infantile neuronal ceroid lipofuscinosis

Sharp, Julie D.; Wheeler, Ruth B.; Parker, Keith A.; Gardiner, R. Mark; Williams, Ruth E.; Mole, Sara E.

Follow Human Mutation , Volume 22 (1) Wiley – Jul 1, 2003

Spectrum of CBS mutations in 16 homocystinuric patients from the Iberian Peninsula: High prevalence of T191M and absence of I278T or G307S

Urreizti, Roser; Balcells, Susana; Rodés, Marga; Vilarinho, Laura; Baldellou, Antonio; Luz Couce, María; Muñoz, Carmen; Campistol, Jaume; Pintó, Xavier; Antonia Vilaseca, María; Grinberg, Daniel

Follow Human Mutation , Volume 22 (1) Wiley – Jul 1, 2003

Determination of SMN1 and SMN2 copy number using TaqMan™ technology

Anhuf, Dirk; Eggermann, Thomas; Rudnik‐Schöneborn, Sabine; Zerres, Klaus

Follow Human Mutation , Volume 22 (1) Wiley – Jul 1, 2003

Epigenetic detection of human chromosome 14 uniparental disomy

Murphy, S.K.; Wylie, A.A.; Coveler, K.J.; Cotter, P.D.; Papenhausen, P.R.; Sutton, V.R.; Shaffer, L.G.; Jirtle, R.L.

Follow Human Mutation , Volume 22 (1) Wiley – Jul 1, 2003

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Human Mutation Volume 22 Issue 1

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Hilton, John F.; Christensen, Karen E.; Watkins, David; Raby, Benjamin A.; Renaud, Yannick; de la Luna, Susanna; Estivill, Xavier; MacKenzie, Robert E.; Hudson, Thomas J.; Rosenblatt, David S.

Follow Human Mutation , Volume 22 (1) Wiley – Jul 1, 2003

Soldevila, Marta; Calafell, Francesc; Andrés, Aida M.; Yagüe, Jordi; Helgason, Agnar; Stefánsson, Kári; Bertranpetit, Jaume

Follow Human Mutation , Volume 22 (1) Wiley – Jul 1, 2003

Southey, M.C.; Tesoriero, A.; Young, M.A.; Holloway, A. J.; Jenkins, M.A.; Whitty, J.; Misfud, S.; kConFab, S.; McLachlan, S.A.; Venter, D.J.; Armes, J.E.

Follow Human Mutation , Volume 22 (1) Wiley – Jul 1, 2003

Hofmann, Wera; Görgens, Heike; John, Anika; Horn, Denise; Hüttner, Christine; Arnold, Norbert; Scherneck, Siegfried; Schackert, Hans K.

Follow Human Mutation , Volume 22 (1) Wiley – Jul 1, 2003

Scotet, Virginie; Barton, David E.; Watson, James B.G.; Audrézet, Marie‐Pierre; McDevitt, Trudi; McQuaid, Shirley; Shortt, Cathy; Braekeleer, Marc De; Férec, Claude; Maréchal, Cédric Le

Follow Human Mutation , Volume 22 (1) Wiley – Jul 1, 2003

Olsen, Rikke K.J.; Andresen, Brage S.; Christensen, Ernst; Bross, Peter; Skovby, Flemming; Gregersen, Niels

Follow Human Mutation , Volume 22 (1) Wiley – Jul 1, 2003

Sharp, Julie D.; Wheeler, Ruth B.; Parker, Keith A.; Gardiner, R. Mark; Williams, Ruth E.; Mole, Sara E.

Follow Human Mutation , Volume 22 (1) Wiley – Jul 1, 2003

Urreizti, Roser; Balcells, Susana; Rodés, Marga; Vilarinho, Laura; Baldellou, Antonio; Luz Couce, María; Muñoz, Carmen; Campistol, Jaume; Pintó, Xavier; Antonia Vilaseca, María; Grinberg, Daniel

Follow Human Mutation , Volume 22 (1) Wiley – Jul 1, 2003

Anhuf, Dirk; Eggermann, Thomas; Rudnik‐Schöneborn, Sabine; Zerres, Klaus

Follow Human Mutation , Volume 22 (1) Wiley – Jul 1, 2003

Murphy, S.K.; Wylie, A.A.; Coveler, K.J.; Cotter, P.D.; Papenhausen, P.R.; Sutton, V.R.; Shaffer, L.G.; Jirtle, R.L.

Follow Human Mutation , Volume 22 (1) Wiley – Jul 1, 2003