|
Charcot-Marie-Tooth disease
|
2000
|
|
BVDH
|
Rautenstrauß B., Lupski J., Timmerman V.
|
|
German
|
| |
1997
|
2004
|
AWMF
|
Rautenstraß B., Nelis E.
|
|
German
|
|
Cystic Fibrosis |
2002
|
2006
|
ACMG
|
Amos J., Feldman G., Wayne W.
|
|
English
|
| |
1997
|
2006
|
AWMF
|
Stuhrmann-Spangenberg M., Aulehla-Scholz C.
|
|
German
|
| |
1997
|
|
BVDH
|
Stuhrmann-Spangenberg M., Aulehla-Scholz C.
|
|
German
|
| |
2000
|
|
CF Network
|
Dequeker E., Cuppens H., Dodge J.
|
|
English
|
|
Cystic Fibrosis Carrier Screening
|
2001
|
|
ACMG
|
Grody Wayne W., Cutting Garry R., Klinger K.
|
|
English
|
|
Faktor V Leiden
|
2004
|
2006
|
ACMG
|
Spector E., Grody W., Matteson C.
|
|
English
|
|
Fragile X Syndrome
|
2001
|
2006
|
EMQN
|
Biancalana V., Steinbach P., Stenhouse S.
|
|
English
|
| |
2005
|
|
CMGS
|
Macpherson J., Sawyer H.
|
|
English
|
| |
2000
|
2006
|
ACMG
|
Spector E., Kronquist K.
|
|
English
|
| |
1998
|
2004
|
BVDH
|
Steinbach P., Gläser D.
|
|
German
|
| |
2004 |
|
AWMF |
Steinbach P., Gläser D.
|
Archive |
German |
|
Friedreich Ataxia
|
2000
|
|
EMQN
|
Ryan F.
|
|
English
|
|
Haemoglobinopathies
|
2002
|
|
EMQN
|
Traeger-Synodinos J., Old J.M., Petrou M.
|
|
English
|
|
Haemophilia A
|
2003
|
2007
|
CMGS |
Keeney S., Mitchell M., Goodeve A.
|
|
English |
|
|
Haemophilia B
|
2003
|
2007
|
CMGS
|
Mitchell M., Keeney S., Goodeve A.
|
|
English
|
|
Haemochromatosis
|
2006
|
|
CMGS
|
King C., Barton D.
|
|
English
|
| |
1997
|
2006
|
AWMF
|
Gabriel H., Stuhrmann-Spangenberg M.
|
|
German
|
|
Hereditary Breast and Ovarian Cancer
|
2001
|
|
EMQN
|
Mueller C., Haworth A.
|
|
English
|
|
Hereditary Motor and Sensory Neuropathies
|
2001
|
2006
|
EMQN
|
Rautenstrauss B., Lupski J., Timmerman V.
|
|
English
|
|
Hereditary Nonpolyposis Colorectal Cancer
|
2002
|
2007
|
CMGS
|
Ball S., Charlton R., Frayling I.
|
|
English
|
|
Huntington Disease |
2006
|
|
ACMG
|
Potter N., Spector E., Prior T.
|
|
English
|
|
Mitochondrial DNA disease
|
2004
|
|
CMGS
|
Sellar A., Taylor R.
|
|
English
|
|
Muscular Dystrophy Duchenne/Becker Type |
1999
|
|
BVDH
|
Mueller-Reible C., Grimm T., Bettecken T.
|
|
German
|
| |
1999
|
|
AWMF
|
Mueller-Reible C., Grimm T., Bettecken T.
|
Archive
|
German
|
|
Prader-Willi Syndrome/Angelman Syndrome
|
1998
|
2002
|
EMQN
|
Harvey J.,Voelckel M.A., A Malzac P.
|
Draft
|
English
|
| |
2001
|
|
BVDH
|
Horsthemke B., Bartsch O., Bürger J.
|
|
German
|
| |
2001
|
|
AWMF
|
Horsthemke B., Bartsch O., Bürger J.
|
Archive
|
German
|
| |
2001
|
|
ACMG
|
Cassidy, S.B. et al
|
|
English
|
|
Retinoblastoma
|
2002
|
|
EMQN
|
Lohmann D., Scheffer H., Gaille B.
|
|
English
|
|
Spinal Muscular Atrophy
|
2001
|
|
EMQN
|
Scheffer H., Cobben J.M., Matthijs G., Wirth B.
|
|
English
|
|
Y Chromosome Microdeletions
|
2004
|
|
EMQN
|
Simoni M., Bakker E., Krausz C.
|
|
English
|