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Author/Creator Zweier, Christiane

2. A new face of Borjeson–Forssman–Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype. Issue 12 (3rd October 2013)

Authors:
Zweier, Christiane; Kraus, Cornelia; Brueton, Louise; Cole, Trevor; Degenhardt, Franziska; Engels, Hartmut; Gillessen-Kaesbach, Gabriele; Graul-Neumann, Luitgard; Horn, Denise; Hoyer, Juliane; Just, Walter; Rauch, Anita; Reis, André; Wollnik, Bernd; Zeschnigk, Michael; Lüdecke, Hermann-Josef; Wie...
Journal:
Journal of medical genetics
Issue:
Volume 50:Issue 12(2013)
Page Start:
838
Record Type:
Journal Article
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3. A novel splice variant expands the LAMC3‐associated cortical phenotype to frontal only polymicrogyria and adult‐onset epilepsy. Issue 11 (9th September 2020)

Authors:
Kasper, Burkhard S.; Kraus, Cornelia; Schwarz, Michael; Rösch, Julie; Thiel, Christian T.; Reis, André; Zweier, Christiane
Journal:
American journal of medical genetics
Issue:
Volume 182:Issue 11(2020)
Page Start:
2761
Record Type:
Journal Article
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5. Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants. (October 2018)

Authors:
Johnston, Jennifer; van der Smagt, Jasper; Rosenfeld, Jill; Pagnamenta, Alistair; Alswaid, Abdulrahman; Baker, Eva; Blair, Edward; Borck, Guntram; Brinkmann, Julia; Craigen, William; Dung, Vu Chi; Emrick, Lisa; Everman, David; van Gassen, Koen; Gulsuner, Suleyman; Harr, Margaret; Jain, Mahim; Kue...
Journal:
Genetics in medicine
Issue:
Volume 20:Number 10(2018)
Page Start:
1175
Record Type:
Journal Article
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6. Biallelic SEMA3A defects cause a novel type of syndromic short stature. Issue 11 (3rd October 2013)

Authors:
Hofmann, Kristin; Zweier, Markus; Sticht, Heinrich; Zweier, Christiane; Wittmann, Wolfgang; Hoyer, Juliane; Uebe, Steffen; van Haeringen, Arie; Thiel, Christian T.; Ekici, Arif B.; Reis, André; Rauch, Anita
Journal:
American journal of medical genetics
Issue:
Volume 161:Issue 11(2013:Nov.)
Page Start:
2880
Record Type:
Journal Article
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7. 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
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8. Clinical delineation of the PACS1‐related syndrome—Report on 19 patients. Issue 3 (3rd February 2016)

Authors:
Schuurs‐Hoeijmakers, Janneke H. M.; Landsverk, Megan L.; Foulds, Nicola; Kukolich, Mary K.; Gavrilova, Ralitza H.; Greville‐Heygate, Stephanie; Hanson‐Kahn, Andrea; Bernstein, Jonathan A.; Glass, Jennifer; Chitayat, David; Burrow, Thomas A.; Husami, Ammar; Collins, Kathleen; Wusik, Katie; van der...
Journal:
American journal of medical genetics
Issue:
Volume 170:Issue 3(2016)
Page Start:
670
Record Type:
Journal Article
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10. DDX3X mutations in two girls with a phenotype overlapping Toriello–Carey syndrome. Issue 5 (29th March 2017)

Authors:
Dikow, Nicola; Granzow, Martin; Graul‐Neumann, Luitgard M.; Karch, Stephanie; Hinderhofer, Katrin; Paramasivam, Nagarajan; Behl, Laura‐Jane; Kaufmann, Lilian; Fischer, Christine; Evers, Christina; Schlesner, Matthias; Eils, Roland; Borck, Guntram; Zweier, Christiane; Bartram, Claus R.; Carey, Joh...
Journal:
American journal of medical genetics
Issue:
Volume 173:Issue 5(2017)
Page Start:
1369
Record Type:
Journal Article
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