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Author/Creator Bohring, Axel

1. Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype. Issue 7 (12th May 2017)

Authors:
Wade, Emma M.; Jenkins, Zandra A.; Daniel, Philip B.; Morgan, Tim; Addor, Marie C.; Adés, Lesley C.; Bertola, Debora; Bohring, Axel; Carter, Erin; Cho, Tae‐Joon; de Geus, Christa M.; Duba, Hans‐Christoph; Fletcher, Elaine; Hadzsiev, Kinga; Hennekam, Raoul C. M.; Kim, Chong A.; Krakow, Deborah; Mo...
Journal:
American journal of medical genetics
Issue:
Volume 173:Issue 7(2017)
Page Start:
1739
Record Type:
Journal Article
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2. Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype. Issue 12 (26th October 2017)

Authors:
Bruel, Ange-Line; Bigoni, Stefania; Kennedy, Joanna; Whiteford, Margo; Buxton, Chris; Parmeggiani, Giulia; Wherlock, Matt; Woodward, Geoff; Greenslade, Mark; Williams, Maggie; St-Onge, Judith; Ferlini, Alessandra; Garani, Giampaolo; Ballardini, Elisa; van Bon, Bregje W; Acuna-Hidalgo, Rocio; Bohr...
Journal:
Journal of medical genetics
Issue:
Volume 54:Issue 12(2017)
Page Start:
830
Record Type:
Journal Article
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4. Spectrum of novel mutations found in Waardenburg syndrome types 1 and 2: implications for molecular genetic diagnostics. Issue 3 (18th March 2013)

Authors:
Wildhardt, Gabriele; Zirn, Birgit; Graul-Neumann, Luitgard M; Wechtenbruch, Juliane; Suckfüll, Markus; Buske, Annegret; Bohring, Axel; Kubisch, Christian; Vogt, Stefanie; Strobl-Wildemann, Gertrud; Greally, Marie; Bartsch, Oliver; Steinberger, Daniela
Journal:
BMJ open
Issue:
Volume 3:Issue 3(2013)
Page Start:
Record Type:
Journal Article
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5. ANKRD11 variants: KBG syndrome and beyond. Issue 2 (14th May 2021)

Authors:
Parenti, Ilaria; Mallozzi, Mark B.; Hüning, Irina; Gervasini, Cristina; Kuechler, Alma; Agolini, Emanuele; Albrecht, Beate; Baquero‐Montoya, Carolina; Bohring, Axel; Bramswig, Nuria C.; Busche, Andreas; Dalski, Andreas; Guo, Yiran; Hanker, Britta; Hellenbroich, Yorck; Horn, Denise; Innes, A. Mich...
Journal:
Clinical genetics
Issue:
Volume 100:Issue 2(2021)
Page Start:
187
Record Type:
Journal Article
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6. Novel FOXF1 Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its DNA Binding Domain. Issue 6 (12th April 2013)

Authors:
Sen, Partha; Yang, Yaping; Navarro, Colby; Silva, Iris; Szafranski, Przemyslaw; Kolodziejska, Katarzyna E.; Dharmadhikari, Avinash V.; Mostafa, Hasnaa; Kozakewich, Harry; Kearney, Debra; Cahill, John B.; Whitt, Merrissa; Bilic, Masha; Margraf, Linda; Charles, Adrian; Goldblatt, Jack; Gibson, Kath...
Journal:
Human mutation
Issue:
Volume 34:Issue 6(2013:Jun.)
Page Start:
801
Record Type:
Journal Article
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7. 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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