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Medientyp
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- Klopocki, Eva
- Sauter, Guido 2
- Simon, Ronald 2
- Altmann, Jens 1
- Bald, Rainer 1
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7 Einträge gefunden
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Biallelic mutation in MYH7 and MYBPC3 leads to severe cardiomyopathy with left ventricular non-compaction phenotype
- Kolokotronis, Konstantinos
- Kühnisch, Jirko
- Klopocki, Eva
- Dartsch, Josephine
- Rost, Simone
- Huculak, Cathleen
- Mearini, Giulia
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Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactyly.
- Klopocki, Eva
- Kähler, Christian
- Foulds, Nicola
- Shah, Hitesh
- Joseph, Benjamin
- Vogel, Hermann
- Lüttgen, Sabine
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The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis.
- Kortüm, Fanny
- Das, Soma
- Flindt, Max
- Morris-Rosendahl, Deborah J
- Stefanova, Irina
- Goldstein, Amy
- Horn, Denise
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Duplications of noncoding elements 5' of SOX9 are associated with brachydactyly-anonychia.
- Kurth, Ingo
- Klopocki, Eva
- Stricker, Sigmar
- van Oosterwijk, Jolieke
- Vanek, Sebastian
- Altmann, Jens
- Santos, Heliosa G
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