Works matching IS 16618769 AND DT 2010 AND VI 1 AND IP 2

Results: 7

A Hypomorphic Allele in the FGF8 Gene Contributes to Holoprosencephaly and Is Allelic to Gonadotropin-Releasing Hormone Deficiency in Humans.
Published in:
Molecular Syndromology, 2010, v. 1, n. 2, p. 59, doi. 10.1159/000302285
By:
- Arauz, R.F.;
- Solomon, B.D.;
- Pineda-Alvarez, D.E.;
- Gropman, A.L.;
- Parsons, J.A.;
- Roessler, E.;
- Muenke, M.
Publication type:
Article
IRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS Sign.
Published in:
Molecular Syndromology, 2010, v. 1, n. 2, p. 67, doi. 10.1159/000313786
By:
- Desmyter, L.;
- Ghassibe, M.;
- Revencu, N.;
- Boute, O.;
- Lees, M.;
- François, G.;
- Verellen-Dumoulin, C.;
- Sznajer, Y.;
- Moncla, A.;
- Benateau, H.;
- Claes, K.;
- Devriendt, K.;
- Mathieu, M.;
- Van Maldergem, L.;
- Addor, M.-C.;
- Drouin-Garraud, V.;
- Mortier, G.;
- Bouma, M.;
- Dieux-Coeslier, A.;
- Genevieve, D.
Publication type:
Article
Interstitial Deletions at 6q14.1-q15 Associated with Obesity, Developmental Delay and a Distinct Clinical Phenotype.
Published in:
Molecular Syndromology, 2010, v. 1, n. 2, p. 75, doi. 10.1159/000314025
By:
- Wentzel, C.;
- Lynch, S.A.;
- Stattin, E.-L.;
- Sharkey, F.H.;
- Annerén, G.;
- Thuresson, A.-C.
Publication type:
Article
Persistent Fetal Vasculature and Severe Protein C Deficiency.
Published in:
Molecular Syndromology, 2010, v. 1, n. 2, p. 82, doi. 10.1159/000302372
By:
- Douglas, A.G.L.;
- Rafferty, H.;
- Hodgkins, P.;
- Nagra, A.;
- Foulds, N.C.;
- Morgan, M.;
- Temple, I.K.
Publication type:
Article
Identical Mutation in SH3BP2 Gene Causes Clinical Phenotypes with Different Severity in Mother and Daughter - Case Report.
Published in:
Molecular Syndromology, 2010, v. 1, n. 2, p. 87, doi. 10.1159/000314268
By:
- Preda, L.;
- Dinca, O.;
- Bucur, A.;
- Dragomir, C.;
- Severin, E.
Publication type:
Article
Juvenile Muscular Atrophy of a Unilateral Upper Extremity (Hirayama Disease) in a Patient with CHARGE Syndrome.
Published in:
Molecular Syndromology, 2010, v. 1, n. 2, p. 91, doi. 10.1159/000315525
By:
- Yagihashi, T.;
- Hatori, K.;
- Ishii, K.;
- Torii, C.;
- Momoshima, S.;
- Takahashi, T.;
- Kosaki, K.
Publication type:
Article
Cri-du-Chat Syndrome Cytogenetically Cryptic Recombination Aneusomy of Chromosome 5: Implications in Recurrence Risk Estimation.
Published in:
Molecular Syndromology, 2010, v. 1, n. 2, p. 95, doi. 10.1159/000319321
By:
- Ohnuki, Y.;
- Torii, C.;
- Kosaki, R.;
- Yagihashi, T.;
- Sago, H.;
- Hayashi, K.;
- Yasukawa, K.;
- Takahashi, T.;
- Kosaki, K.
Publication type:
Article

Works matching IS 16618769 AND DT 2010 AND VI 1 AND IP 2

A Hypomorphic Allele in the FGF8 Gene Contributes to Holoprosencephaly and Is Allelic to Gonadotropin-Releasing Hormone Deficiency in Humans.

IRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS Sign.

Interstitial Deletions at 6q14.1-q15 Associated with Obesity, Developmental Delay and a Distinct Clinical Phenotype.

Persistent Fetal Vasculature and Severe Protein C Deficiency.

Identical Mutation in SH3BP2 Gene Causes Clinical Phenotypes with Different Severity in Mother and Daughter - Case Report.

Juvenile Muscular Atrophy of a Unilateral Upper Extremity (Hirayama Disease) in a Patient with CHARGE Syndrome.

Cri-du-Chat Syndrome Cytogenetically Cryptic Recombination Aneusomy of Chromosome 5: Implications in Recurrence Risk Estimation.