Search

Author/Creator Bader, Ingrid

1. CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. Issue 1 (December 2018)

Authors:
Snijders Blok, Lot; Rousseau, Justine; Twist, Joanna; Ehresmann, Sophie; Takaku, Motoki; Venselaar, Hanka; Rodan, Lance; Nowak, Catherine; Douglas, Jessica; Swoboda, Kathryn; Steeves, Marcie; Sahai, Inderneel; Stumpel, Connie; Stegmann, Alexander; Wheeler, Patricia; Willing, Marcia; Fiala, Elise;...
Journal:
Nature communications
Issue:
Volume 9:Issue 1(2018)
Page Start:
1
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

2. Females with de novo aberrations in PHF6: Clinical overlap of Borjeson–Forssman–Lehmann with Coffin–Siris syndrome. Issue 3 (5th August 2014)

Authors:
Zweier, Christiane; Rittinger, Olaf; Bader, Ingrid; Berland, Siren; Cole, Trevor; Degenhardt, Franziska; Di Donato, Nataliya; Graul‐Neumann, Luitgard; Hoyer, Juliane; Lynch, Sally Ann; Vlasak, Ingrid; Wieczorek, Dagmar; Kosho, Tomoki; Miyake, Noriko
Journal:
American journal of medical genetics
Issue:
Volume 166:Issue 3(2014)
Page Start:
290
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. Phenotypes and genotypes in individuals with SMC1A variants. Issue 8 (26th May 2017)

Authors:
Huisman, Sylvia; Mulder, Paul A.; Redeker, Egbert; Bader, Ingrid; Bisgaard, Anne‐Marie; Brooks, Alice; Cereda, Anna; Cinca, Constanza; Clark, Dinah; Cormier‐Daire, Valerie; Deardorff, Matthew A.; Diderich, Karin; Elting, Mariet; van Essen, Anthonie; FitzPatrick, David; Gervasini, Cristina; Gilles...
Journal:
American journal of medical genetics
Issue:
Volume 173:Issue 8(2017)
Page Start:
2108
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

4. Reversible epileptic encephalopathy upon uridine treatment in patients with CAD mutations. (June 2017)

Authors:
Koch, Johannes; Mayr, Johannes A.; Alhaddad, Bader; Rauscher, Christian; Bader, Ingrid; Distelmaier, Felix; Polster, Tilman; Leiz, Steffen; Betzler, Cornelia; Sperl, Wolfgang; Wortmann, Saskia B.; Haack, Tobias B.
Journal:
European journal of paediatric neurology
Issue:
Volume 21(2017)Supplement 1
Page Start:
e176
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

5. The ciliary transition zone protein TMEM218 synergistically interacts with the NPHP module and its reduced dosage leads to a wide range of syndromic ciliopathies. Issue 14 (6th February 2022)

Authors:
Epting, Daniel; Decker, Eva; Ott, Elisabeth; Eisenberger, Tobias; Bader, Ingrid; Bachmann, Nadine; Bergmann, Carsten
Journal:
Human molecular genetics
Issue:
Volume 31:Issue 14(2022)
Page Start:
2295
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗