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Human Mutation Volume 9 Issue 6

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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Identification of two novel LDL receptor gene defects in French‐Canadian pediatric population: Mutational analysis and biochemical studies

Assouline, Linda; Leitersdorf, Eran; Lambert, Marie; Reshef, Ayeleth; Feoli‐Fonseca, Juan C.; Levy, Emile

Follow Human Mutation , Volume 9 (6) Wiley – Jan 1, 1997
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NF1 mutation analysis using a combined heteroduplex/SSCP approach

Abernathy, Corinne R.; Rasmussen, Sonja A.; Stalker, Heather J.; Zori, Roberto; Driscoll, Daniel J.; Williams, Charles A.; Kousseff, Boris G.; Wallace, Margaret R.

Follow Human Mutation , Volume 9 (6) Wiley – Jan 1, 1997
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Screening for ESR mutations in breast and ovarian cancer patients

Andersen, Tone Ikdahl; Wooster, Richard; Laake, Kirsten; Collins, Nadine; Warren, William; Skrede, Martina; Eeles, Rose; Tveit, Kjell M.; Johnston, Stephen R. D.; Dowsett, Mitchell; Olsen, Anne O.; Møller, Pål; Stratton, Mike R.; Børresen‐Dale, Anne‐Lise

Follow Human Mutation , Volume 9 (6) Wiley – Jan 1, 1997
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Nine novel L1 CAM mutations in families with X‐linked hydrocephalus

MacFarlane, John R.; Du, Jian‐Sheng; Pepys, Miriam E.; Ramsden, Simon; Donnai, Dian; Charlton, Ruth; Garrett, Christine; Tolmie, John; Yates, John R. W.; Berry, Caroline; Goudie, David; Moncla, Anne; Lunt, Peter; Hodgson, Shirley; Jouet, Monique; Kenwrick, Susan

Follow Human Mutation , Volume 9 (6) Wiley – Jan 1, 1997
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Mutations in the adrenoleukodystrophy gene

Dodd, Andrew; Rowland, Shelley A.; Hawkes, Sheryl L. J.; Kennedy, Martin A.; Love, Donald R.

Follow Human Mutation , Volume 9 (6) Wiley – Jan 1, 1997
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Facilitated diagnosis of CMT1A duplication in chromosome 17p11.2‐12: Analysis with a CMT1A‐REP repeat probe and photostimulated luminescence imaging

Ikegami, Tohru; Ikeda, Hiroyuki; Chance, Phillip F.; Kiyosawa, Hidenori; Yamamoto, Masahiko; Sobue, Gen; Ohnishi, Akio; Tachi, Nobutada; Hayasaka, Kiyoshi

Follow Human Mutation , Volume 9 (6) Wiley – Jan 1, 1997
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DNA repair characteristics and mutations in the ERCC2 DNA repair and transcription gene in a trichothiodystrophy patient

Takayama, Kyoko; Danks, David M.; Salazar, Edmund P.; Cleaver, James E.; Weber, Christine A.

Follow Human Mutation , Volume 9 (6) Wiley – Jan 1, 1997
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Large majority of single‐nucleotide mutations along the dystrophin gene can be explained by more than one mechanism of mutagenesis

Todorova, Albena; Danieli, Gian Antonio

Follow Human Mutation , Volume 9 (6) Wiley – Jan 1, 1997
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The clinical spectrum of type IV collagen mutations

Lemmink, Henny H.; Schröder, Cornelis H.; Monnens, Leo A. H.; Smeets, Huber J. M.

Follow Human Mutation , Volume 9 (6) Wiley – Jan 1, 1997
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Six novel mutations in the emerin gene causing X‐linked Emery‐Dreifuss muscular dystrophy

Wulff, Karin; Parrish, Julia E.; Herrmann, Falko H.; Wehnert, Manfred

Follow Human Mutation , Volume 9 (6) Wiley – Jan 1, 1997

Human Mutation Volume 9 Issue 6

Identification of two novel LDL receptor gene defects in French‐Canadian pediatric population: Mutational analysis and biochemical studies

Assouline, Linda; Leitersdorf, Eran; Lambert, Marie; Reshef, Ayeleth; Feoli‐Fonseca, Juan C.; Levy, Emile

Follow Human Mutation , Volume 9 (6) Wiley – Jan 1, 1997

NF1 mutation analysis using a combined heteroduplex/SSCP approach

Abernathy, Corinne R.; Rasmussen, Sonja A.; Stalker, Heather J.; Zori, Roberto; Driscoll, Daniel J.; Williams, Charles A.; Kousseff, Boris G.; Wallace, Margaret R.

Follow Human Mutation , Volume 9 (6) Wiley – Jan 1, 1997

Screening for ESR mutations in breast and ovarian cancer patients

Andersen, Tone Ikdahl; Wooster, Richard; Laake, Kirsten; Collins, Nadine; Warren, William; Skrede, Martina; Eeles, Rose; Tveit, Kjell M.; Johnston, Stephen R. D.; Dowsett, Mitchell; Olsen, Anne O.; Møller, Pål; Stratton, Mike R.; Børresen‐Dale, Anne‐Lise

Follow Human Mutation , Volume 9 (6) Wiley – Jan 1, 1997

Nine novel L1 CAM mutations in families with X‐linked hydrocephalus

MacFarlane, John R.; Du, Jian‐Sheng; Pepys, Miriam E.; Ramsden, Simon; Donnai, Dian; Charlton, Ruth; Garrett, Christine; Tolmie, John; Yates, John R. W.; Berry, Caroline; Goudie, David; Moncla, Anne; Lunt, Peter; Hodgson, Shirley; Jouet, Monique; Kenwrick, Susan

Follow Human Mutation , Volume 9 (6) Wiley – Jan 1, 1997

Mutations in the adrenoleukodystrophy gene

Dodd, Andrew; Rowland, Shelley A.; Hawkes, Sheryl L. J.; Kennedy, Martin A.; Love, Donald R.

Follow Human Mutation , Volume 9 (6) Wiley – Jan 1, 1997

Facilitated diagnosis of CMT1A duplication in chromosome 17p11.2‐12: Analysis with a CMT1A‐REP repeat probe and photostimulated luminescence imaging

Ikegami, Tohru; Ikeda, Hiroyuki; Chance, Phillip F.; Kiyosawa, Hidenori; Yamamoto, Masahiko; Sobue, Gen; Ohnishi, Akio; Tachi, Nobutada; Hayasaka, Kiyoshi

Follow Human Mutation , Volume 9 (6) Wiley – Jan 1, 1997

DNA repair characteristics and mutations in the ERCC2 DNA repair and transcription gene in a trichothiodystrophy patient

Takayama, Kyoko; Danks, David M.; Salazar, Edmund P.; Cleaver, James E.; Weber, Christine A.

Follow Human Mutation , Volume 9 (6) Wiley – Jan 1, 1997

Large majority of single‐nucleotide mutations along the dystrophin gene can be explained by more than one mechanism of mutagenesis

Todorova, Albena; Danieli, Gian Antonio

Follow Human Mutation , Volume 9 (6) Wiley – Jan 1, 1997

The clinical spectrum of type IV collagen mutations

Lemmink, Henny H.; Schröder, Cornelis H.; Monnens, Leo A. H.; Smeets, Huber J. M.

Follow Human Mutation , Volume 9 (6) Wiley – Jan 1, 1997

Six novel mutations in the emerin gene causing X‐linked Emery‐Dreifuss muscular dystrophy

Wulff, Karin; Parrish, Julia E.; Herrmann, Falko H.; Wehnert, Manfred

Follow Human Mutation , Volume 9 (6) Wiley – Jan 1, 1997

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Human Mutation Volume 9 Issue 6

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Assouline, Linda; Leitersdorf, Eran; Lambert, Marie; Reshef, Ayeleth; Feoli‐Fonseca, Juan C.; Levy, Emile

Follow Human Mutation , Volume 9 (6) Wiley – Jan 1, 1997

Abernathy, Corinne R.; Rasmussen, Sonja A.; Stalker, Heather J.; Zori, Roberto; Driscoll, Daniel J.; Williams, Charles A.; Kousseff, Boris G.; Wallace, Margaret R.

Follow Human Mutation , Volume 9 (6) Wiley – Jan 1, 1997

Andersen, Tone Ikdahl; Wooster, Richard; Laake, Kirsten; Collins, Nadine; Warren, William; Skrede, Martina; Eeles, Rose; Tveit, Kjell M.; Johnston, Stephen R. D.; Dowsett, Mitchell; Olsen, Anne O.; Møller, Pål; Stratton, Mike R.; Børresen‐Dale, Anne‐Lise

Follow Human Mutation , Volume 9 (6) Wiley – Jan 1, 1997

MacFarlane, John R.; Du, Jian‐Sheng; Pepys, Miriam E.; Ramsden, Simon; Donnai, Dian; Charlton, Ruth; Garrett, Christine; Tolmie, John; Yates, John R. W.; Berry, Caroline; Goudie, David; Moncla, Anne; Lunt, Peter; Hodgson, Shirley; Jouet, Monique; Kenwrick, Susan

Follow Human Mutation , Volume 9 (6) Wiley – Jan 1, 1997

Dodd, Andrew; Rowland, Shelley A.; Hawkes, Sheryl L. J.; Kennedy, Martin A.; Love, Donald R.

Follow Human Mutation , Volume 9 (6) Wiley – Jan 1, 1997

Ikegami, Tohru; Ikeda, Hiroyuki; Chance, Phillip F.; Kiyosawa, Hidenori; Yamamoto, Masahiko; Sobue, Gen; Ohnishi, Akio; Tachi, Nobutada; Hayasaka, Kiyoshi

Follow Human Mutation , Volume 9 (6) Wiley – Jan 1, 1997

Takayama, Kyoko; Danks, David M.; Salazar, Edmund P.; Cleaver, James E.; Weber, Christine A.

Follow Human Mutation , Volume 9 (6) Wiley – Jan 1, 1997

Todorova, Albena; Danieli, Gian Antonio

Follow Human Mutation , Volume 9 (6) Wiley – Jan 1, 1997

Lemmink, Henny H.; Schröder, Cornelis H.; Monnens, Leo A. H.; Smeets, Huber J. M.

Follow Human Mutation , Volume 9 (6) Wiley – Jan 1, 1997

Wulff, Karin; Parrish, Julia E.; Herrmann, Falko H.; Wehnert, Manfred

Follow Human Mutation , Volume 9 (6) Wiley – Jan 1, 1997