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Journal Orphanet journal of rare diseases

2. 47 patients with FLNA associated periventricular nodular heterotopia. Issue 1 (December 2015)

Authors:
Lange, Max; Kasper, Burkhard; Bohring, Axel; Rutsch, Frank; Kluger, Gerhard; Hoffjan, Sabine; Spranger, Stephanie; Behnecke, Anne; Ferbert, Andreas; Hahn, Andreas; Oehl-Jaschkowitz, Barbara; Graul-Neumann, Luitgard; Diepold, Katharina; Schreyer, Isolde; Bernhard, Matthias; Mueller, Franziska; Sie...
Journal:
Orphanet journal of rare diseases
Issue:
Volume 9:Issue 1(2014)
Page Start:
1
Record Type:
Journal Article
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3. 8th European Conference on Rare Diseases & Orphan Products (ECRD 2016). Issue 1 (November 2016)

Authors:
Schlander, Michael; Holm, Søren; Nord, Erik; Richardson, Jeff; Garattini, Silvio; Kolominsky-Rabas, Peter; Marshall, Deborah; Persson, Ulf; Postma, Maarten; Simoens, Steven; de Solà Morales, Oriol; Tolley, Keith; Toumi, Mondher; Telser, Harry; Bonham, James; Hintner, Helmut; Diem, Anja; Laimer, M...
Journal:
Orphanet journal of rare diseases
Issue:
Volume 11:Issue 1(2016)
Page Start:
1
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

4. A case of fatal Type I congenital disorders of glycosylation (CDG I) associated with low dehydrodolichol diphosphate synthase (DHDDS) activity. Issue 1 (December 2016)

Authors:
Sabry, S.; Vuillaumier-Barrot, S.; Mintet, E.; Fasseu, M.; Valayannopoulos, V.; Héron, D.; Dorison, N.; Mignot, C.; Seta, N.; Chantret, I.; Dupré, T.; Moore, S.
Journal:
Orphanet journal of rare diseases
Issue:
Volume 11:Issue 1(2016)
Page Start:
1
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

6. A homozygous splicing mutation in ELAC2 suggests phenotypic variability including intellectual disability with minimal cardiac involvement. Issue 1 (December 2016)

Authors:
Akawi, Nadia; Ben-Salem, Salma; Hertecant, Jozef; John, Anne; Pramathan, Thachillath; Kizhakkedath, Praseetha; Ali, Bassam; Al-Gazali, Lihadh
Journal:
Orphanet journal of rare diseases
Issue:
Volume 11:Issue 1(2016)
Page Start:
1
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

10. A summary of molecular genetic findings in fructose-1, 6-bisphosphatase deficiency with a focus on a common long-range deletion and the role of MLPA analysis. Issue 1 (December 2016)

Authors:
Santer, René; du Moulin, Marcel; Shahinyan, Tatevik; Vater, Inga; Maier, Esther; Muntau, Ania; Steinmann, Beat
Journal:
Orphanet journal of rare diseases
Issue:
Volume 11:Issue 1(2016)
Page Start:
1
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

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