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Volume 6; Issue 3
Main
Molecular Syndromology
Volume 6; Issue 3
Molecular Syndromology
Volume 6; Issue 3
1
Familial 1.3-Mb 11p15.5p15.4 Duplication in Three Generations Causing Silver-Russell and Beckwith-Wiedemann Syndromes
Vals, Mari-Anne
,
Kahre, Tiina
,
Mee, Pille
,
Muru, Kai
,
Kallas, Eha
,
�ilina, Olga
,
Tillmann, Vallo
,
�unap, Katrin
Journal:
Molecular Syndromology
Year:
2015
Language:
english
File:
PDF, 469 KB
Your tags:
english, 2015
2
Mechanisms of Origin, Phenotypic Effects and Diagnostic Implications of Complex Chromosome Rearrangements
Poot, Martin
,
Haaf, Thomas
Journal:
Molecular Syndromology
Year:
2015
Language:
english
File:
PDF, 2.78 MB
Your tags:
english, 2015
3
The Benefits of Whole-Genome Sequencing Now and in the Future
Khromykh, Alina
,
Solomon, Benjamin D.
Journal:
Molecular Syndromology
Year:
2015
Language:
english
File:
PDF, 247 KB
Your tags:
english, 2015
4
The Diagnostic Utility of Single Long Contiguous Stretches of Homozygosity in Patients without Parental Consanguinity
Pajusalu, Sander
,
�ilina, Olga
,
Yakoreva, Maria
,
Tammur, Pille
,
Kuuse, Kati
,
M�lter-V��r, Triin
,
N�ukas, Margit
,
Reimand, Tiia
,
�unap, Katrin
Journal:
Molecular Syndromology
Year:
2015
Language:
english
File:
PDF, 342 KB
Your tags:
english, 2015
5
Diagnosis of D-Bifunctional Protein Deficiency through Whole-Genome Sequencing: Implications for Cost-Effective Care
Khromykh, Alina
,
Solomon, Benjamin D.
,
Bodian, Dale L.
,
Leon, Eyby L.
,
Iyer, Ramaswamy K.
,
Baker, Robin L.
,
Ascher, David P.
,
Baveja, Rajiv
,
Vockley, Joseph G.
,
Niederhuber, John E.
Journal:
Molecular Syndromology
Year:
2015
Language:
english
File:
PDF, 546 KB
Your tags:
english, 2015
6
Double, Double Toil and Trouble
Poot, Martin
Journal:
Molecular Syndromology
Year:
2015
Language:
english
File:
PDF, 372 KB
Your tags:
english, 2015
7
New Section: Novel Insights from Clinical Practice
Shaffer, Lisa
,
Schmid, Michael
Journal:
Molecular Syndromology
Year:
2015
Language:
english
File:
PDF, 51 KB
Your tags:
english, 2015
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