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Ricarda Flöttmann

Showing results (1-10 of 15) with videos related to

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American Journal of Medical Genetics. Part A|June 29, 2016
Recurrence of split hand/foot malformation, cleft lip/palate, and severe urogenital abnormalities due to germline mosaicism for TP63 mutationAnnabelle Enriquez, Michael Krivanek, Ricarda Flöttmann, et al.
European Journal of Medical Genetics|June 1, 2017
Novel splice mutation in LRP4 causes severe type of Cenani-Lenz syndactyly syndrome with oro-facial and skeletal symptomsMuhammad Afzal, Qamar Zaman, Uwe Kornak, et al.
European Journal of Medical Genetics|November 8, 2019
Split hand/foot malformation associated with 20p12.1 deletion: A case reportLyse Ruaud, Ricarda Flöttmann, Malte Spielmann, et al.
Molecular Syndromology|December 13, 2017
A Novel de novo <i>FZD2</i> Mutation in a Patient with Autosomal Dominant OmodysplasiaSeval Türkmen, Malte Spielmann, Nilay Güneş, et al.
European Journal of Medical Genetics|June 23, 2015
FGFR2 mutation in a patient without typical features of Pfeiffer syndrome--The emerging role of combined NGS and phenotype based strategiesRicarda Flöttmann, Alexej Knaus, Tomasz Zemojtel, et al.
Journal of Human Genetics|September 9, 2016
A de novo 1q23.3-q24.2 deletion combined with a GORAB missense mutation causes a distinctive phenotype with cutis laxaMohammed Al-Bughaili, Teresa M Neuhann, Ricarda Flöttmann, et al.
European Journal of Human Genetics : EJHG|January 7, 2016
Duplication of PTHLH causes osteochondroplasia with a combined brachydactyly type E/A1 phenotype with disturbed bone maturation and rhizomeliaRicarda Flöttmann, Anna Sowinska-Seidler, Julie Lavie, et al.
American Journal of Medical Genetics. Part A|January 30, 2016
Femoral facial syndrome associated with a de novo complex chromosome 2q37 rearrangementMalte Spielmann, Sylvie Marx, Gotthold Barbi, et al.
Orphanet Journal of Rare Diseases|September 19, 2014
Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated familiesNaeimeh Tayebi, Aleksander Jamsheer, Ricarda Flöttmann, et al.
European Journal of Human Genetics : EJHG|July 20, 2019
Differentiation of MISSLA and Fanconi anaemia by computer-aided image analysis and presentation of two novel MISSLA siblingsMagdalena Danyel, Zhuo Cheng, Christine Jung, et al.
Pageof 2

Showing results (1-10 of 15) with videos related to

Sort By:
Pageof 2
American Journal of Medical Genetics. Part A|June 29, 2016
Recurrence of split hand/foot malformation, cleft lip/palate, and severe urogenital abnormalities due to germline mosaicism for TP63 mutationAnnabelle Enriquez, Michael Krivanek, Ricarda Flöttmann, et al.
European Journal of Medical Genetics|June 1, 2017
Novel splice mutation in LRP4 causes severe type of Cenani-Lenz syndactyly syndrome with oro-facial and skeletal symptomsMuhammad Afzal, Qamar Zaman, Uwe Kornak, et al.
European Journal of Medical Genetics|November 8, 2019
Split hand/foot malformation associated with 20p12.1 deletion: A case reportLyse Ruaud, Ricarda Flöttmann, Malte Spielmann, et al.
Molecular Syndromology|December 13, 2017
A Novel de novo <i>FZD2</i> Mutation in a Patient with Autosomal Dominant OmodysplasiaSeval Türkmen, Malte Spielmann, Nilay Güneş, et al.
European Journal of Medical Genetics|June 23, 2015
FGFR2 mutation in a patient without typical features of Pfeiffer syndrome--The emerging role of combined NGS and phenotype based strategiesRicarda Flöttmann, Alexej Knaus, Tomasz Zemojtel, et al.
Journal of Human Genetics|September 9, 2016
A de novo 1q23.3-q24.2 deletion combined with a GORAB missense mutation causes a distinctive phenotype with cutis laxaMohammed Al-Bughaili, Teresa M Neuhann, Ricarda Flöttmann, et al.
European Journal of Human Genetics : EJHG|January 7, 2016
Duplication of PTHLH causes osteochondroplasia with a combined brachydactyly type E/A1 phenotype with disturbed bone maturation and rhizomeliaRicarda Flöttmann, Anna Sowinska-Seidler, Julie Lavie, et al.
American Journal of Medical Genetics. Part A|January 30, 2016
Femoral facial syndrome associated with a de novo complex chromosome 2q37 rearrangementMalte Spielmann, Sylvie Marx, Gotthold Barbi, et al.
Orphanet Journal of Rare Diseases|September 19, 2014
Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated familiesNaeimeh Tayebi, Aleksander Jamsheer, Ricarda Flöttmann, et al.
European Journal of Human Genetics : EJHG|July 20, 2019
Differentiation of MISSLA and Fanconi anaemia by computer-aided image analysis and presentation of two novel MISSLA siblingsMagdalena Danyel, Zhuo Cheng, Christine Jung, et al.
Pageof 2