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Volume 1; Issue 6
Main
Molecular Syndromology
Volume 1; Issue 6
Molecular Syndromology
Volume 1; Issue 6
1
RASopathies: Clinical Diagnosis in the First Year of Life
Digilio, M.C.
,
Lepri, F.
,
Baban, A.
,
Dentici, M.L.
,
Versacci, P.
,
Capolino, R.
,
Ferese, R.
,
De Luca, A.
,
Tartaglia, M.
,
Marino, B.
,
Dallapiccola, B.
Journal:
Molecular Syndromology
Year:
2010
Language:
english
File:
PDF, 192 KB
Your tags:
english, 2010
2
Mutations in SDCCAG8/NPHP10 Cause Bardet-Biedl Syndrome and Are Associated with Penetrant Renal Disease and Absent Polydactyly
Schaefer, E.
,
Zaloszyc, A.
,
Lauer, J.
,
Durand, M.
,
Stutzmann, F.
,
Perdomo-Trujillo, Y.
,
Redin, C.
,
Bennouna Greene, V.
,
Toutain, A.
,
Perrin, L.
,
Gérard, M.
,
Caillard, S.
,
Bei, X.
,
Lewis, R.A.
,
Christm
Journal:
Molecular Syndromology
Year:
2010
Language:
english
File:
PDF, 722 KB
Your tags:
english, 2010
3
Analysis of FOXG1 Is Highly Recommended in Male and Female Patients with Rett Syndrome
Van der Aa, N.
,
Van den Bergh, M.
,
Ponomarenko, N.
,
Verstraete, L.
,
Ceulemans, B.
,
Storm, K.
Journal:
Molecular Syndromology
Year:
2010
Language:
english
File:
PDF, 162 KB
Your tags:
english, 2010
4
A Boy with Holt-Oram Syndrome Caused by Novel Mutation c.1304delT in the TBX5 Gene
Muru, K.
,
Kalev, I.
,
Teek, R.
,
Sõnajalg, M.
,
Kuuse, K.
,
Reimand, T.
,
Õunap, K.
Journal:
Molecular Syndromology
Year:
2010
Language:
english
File:
PDF, 256 KB
Your tags:
english, 2010
5
PHF6 Deletions May Cause Borjeson-Forssman-Lehmann Syndrome in Females
Berland, S.
,
Alme, K.
,
Brendehaug, A.
,
Houge, G.
,
Hovland, R.
Journal:
Molecular Syndromology
Year:
2010
Language:
english
File:
PDF, 421 KB
Your tags:
english, 2010
6
Whole Xp Deletion in a Girl with Mental Retardation, Epilepsy, and Biochemical Features of OTC Deficiency
Joost, K.
,
Tammur, P.
,
Teek, R.
,
Žilina, O.
,
Peters, M.
,
Kreile, M.
,
Lace, B.
,
Žordania, R.
,
Talvik, I.
,
Õunap, K.
Journal:
Molecular Syndromology
Year:
2010
Language:
english
File:
PDF, 271 KB
Your tags:
english, 2010
7
Two Adult Patients with Ellis-van Creveld Syndrome Extending the Clinical Spectrum
Rudnik-Schöneborn, S.
,
Zerres, K.
,
Graul-Neumann, L.
,
Wiegand, S.
,
Mellerowicz, H.
,
Hehr, U.
Journal:
Molecular Syndromology
Year:
2010
Language:
english
File:
PDF, 489 KB
Your tags:
english, 2010
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