Works matching IS 16618769 AND DT 2010 AND VI 1 AND IP 3

Results: 6

Disturbed Wnt Signalling due to a Mutation in CCDC88C Causes an Autosomal Recessive Non-Syndromic Hydrocephalus with Medial Diverticulum.
Published in:
Molecular Syndromology, 2010, v. 1, n. 3, p. 99, doi. 10.1159/000319859
By:
- Ekici, A.B.;
- Hilfinger, D.;
- Jatzwauk, M.;
- Thiel, C.T.;
- Wenzel, D.;
- Lorenz, I.;
- Boltshauser, E.;
- Goecke, T.W.;
- Staatz, G.;
- Morris-Rosendahl, D.J.;
- Sticht, H.;
- Hehr, U.;
- Reis, A.;
- Rauch, A.
Publication type:
Article
Distinctive Phenotypic Abnormalities Associated with Submicroscopic 21q22 Deletion Including DYRK1A.
Published in:
Molecular Syndromology, 2010, v. 1, n. 3, p. 113, doi. 10.1159/000320113
By:
- Oegema, R.;
- de Klein, A.;
- Verkerk, A.J.;
- Schot, R.;
- Dumee, B.;
- Douben, H.;
- Eussen, B.;
- Dubbel, L.;
- Poddighe, P.J.;
- van der Laar, I.;
- Dobyns, W.B.;
- van der Spek, P.J.;
- Lequin, M.H.;
- de Coo, I.F.M.;
- de Wit, M.-C.Y.;
- Wessels, M.W.;
- Mancini, G.M.S.
Publication type:
Article
Expansion of the Spectrum of FLNA Mutations Associated with Melnick-Needles Syndrome.
Published in:
Molecular Syndromology, 2010, v. 1, n. 3, p. 121, doi. 10.1159/000320184
By:
- Foley, C.;
- Roberts, K.;
- Tchrakian, N.;
- Morgan, T.;
- Fryer, A.;
- Robertson, S.P.;
- Tubridy, N.
Publication type:
Article
A Novel LMNA Mutation Causes Altered Nuclear Morphology and Symptoms of Familial Partial Lipodystrophy (Dunnigan Variety) with Progeroid Features.
Published in:
Molecular Syndromology, 2010, v. 1, n. 3, p. 127, doi. 10.1159/000320166
By:
- Saha, B.;
- Lessel, D.;
- Hisama, F.M.;
- Leistritz, D.F.;
- Friedrich, K.;
- Martin, G.M.;
- Kubisch, C.;
- Oshima, J.
Publication type:
Article
An Illustrative Case of Neurofibromatosis Type 1 and NF1 Microdeletion.
Published in:
Molecular Syndromology, 2010, v. 1, n. 3, p. 133, doi. 10.1159/000319976
By:
- Praxedes, L.A.;
- Pereira, F.M.;
- Mazzeu, J.F.;
- Costa, S.S.;
- Bertola, D.R.;
- Kim, C.A.;
- Vianna-Morgante, A.M.;
- Otto, P.A.
Publication type:
Article
MRNET Conference.
Published in:
Molecular Syndromology, 2010, v. 1, n. 3, p. 136, doi. 10.1159/000320025
Publication type:
Article

Works matching IS 16618769 AND DT 2010 AND VI 1 AND IP 3

Disturbed Wnt Signalling due to a Mutation in CCDC88C Causes an Autosomal Recessive Non-Syndromic Hydrocephalus with Medial Diverticulum.

Distinctive Phenotypic Abnormalities Associated with Submicroscopic 21q22 Deletion Including DYRK1A.

Expansion of the Spectrum of FLNA Mutations Associated with Melnick-Needles Syndrome.

A Novel LMNA Mutation Causes Altered Nuclear Morphology and Symptoms of Familial Partial Lipodystrophy (Dunnigan Variety) with Progeroid Features.

An Illustrative Case of Neurofibromatosis Type 1 and NF1 Microdeletion.

MRNET Conference.