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Flöttmann, Ricarda
20  Ergebnisse:
Personensuche X
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1

Split hand/foot malformation associated with 20p12.1 deleti..:

Ruaud, Lyse ; Flöttmann, Ricarda ; Spielmann, Malte...
European Journal of Medical Genetics.  63 (2020)  4 - p. 103805 , 2020
Link: https://doi.org/10.1016/..
 
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2

Differentiation of MISSLA and Fanconi anaemia by computer-a..:

Danyel, Magdalena ; Cheng, Zhuo ; Jung, Christine...
European Journal of Human Genetics.  27 (2019)  12 - p. 1827-1835 , 2019
Link: https://doi.org/10.1038/..
 
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3

Noncoding copy-number variations are associated with congen..:

Flöttmann, Ricarda ; Kragesteen, Bjørt K. ; Geuer, Sinje...
Genetics in Medicine.  20 (2018)  6 - p. 599-607 , 2018
Link: https://doi.org/10.1038/..
 
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4

Novel splice mutation in LRP4 causes severe type of Cenani-..:

Afzal, Muhammad ; Zaman, Qamar ; Kornak, Uwe...
European Journal of Medical Genetics.  60 (2017)  8 - p. 421-425 , 2017
Link: https://doi.org/10.1016/..
 
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5

Exome sequencing and CRISPR/Cas genome editing identify mut..:

Spielmann, Malte ; Kakar, Naseebullah ; Tayebi, Naeimeh...
Genome Research.  26 (2016)  2 - p. 183-191 , 2016
Link: https://doi.org/10.1101/..
 
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6

A de novo 1q23.3-q24.2 deletion combined with a GORAB misse..:

Al-Bughaili, Mohammed ; Neuhann, Teresa M ; Flöttmann, Ricarda...
Journal of Human Genetics.  62 (2016)  2 - p. 325-328 , 2016
Link: https://doi.org/10.1038/..
 
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7

Femoral facial syndrome associated with a de novo complex c..:

Spielmann, Malte ; Marx, Sylvie ; Barbi, Gotthold...
American Journal of Medical Genetics Part A.  170 (2016)  5 - p. 1202-1207 , 2016
Link: https://doi.org/10.1002/..
 
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8

Duplication of PTHLH causes osteochondroplasia with a combi..:

Flöttmann, Ricarda ; Sowinska-Seidler, Anna ; Lavie, Julie...
European Journal of Human Genetics.  24 (2016)  8 - p. 1132-1136 , 2016
Link: https://doi.org/10.1038/..
 
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9

Recurrence of split hand/foot malformation, cleft lip/palat..:

Enriquez, Annabelle ; Krivanek, Michael ; Flöttmann, Ricarda..
American Journal of Medical Genetics Part A.  170 (2016)  9 - p. 2372-2376 , 2016
Link: https://doi.org/10.1002/..
 
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10

FGFR2 mutation in a patient without typical features of Pfe..:

Flöttmann, Ricarda ; Knaus, Alexej ; Zemojtel, Tomasz...
European Journal of Medical Genetics.  58 (2015)  8 - p. 376-380 , 2015
Link: https://doi.org/10.1016/..
 
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11

Deletions of exons with regulatory activity at the DYNC1I1 ..:

Tayebi, Naeimeh ; Jamsheer, Aleksander ; Flöttmann, Ricarda...
Orphanet Journal of Rare Diseases.  9 (2014)  1 - p. , 2014
Link: https://doi.org/10.1186/..
 
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12

Die Rolle von Entactin-1 und -2 bei der Skelettmuskelzelldi..:

Flöttmann, Ricarda , 2011
Link: http://nbn-resolving.de/..
 
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13

Split hand/foot malformation associated with 20p12.1 deleti..:

Ruaud, Lyse ; Flöttmann, Ricarda ; Spielmann, Malte...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ejmg.2019.103805.  , 2020
Link: https://hal.science/hal-..
 
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14

Split hand/foot malformation associated with 20p12.1 deleti..:

Ruaud, Lyse ; Flöttmann, Ricarda ; Spielmann, Malte...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ejmg.2019.103805.  , 2020
Link: https://hal.science/hal-..
 
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15

Noncoding copy-number variations are associated with congen..:

Flöttmann, Ricarda ; Kragesteen, Bjørt K ; Geuer, Sinje...
info:eu-repo/semantics/altIdentifier/doi/10.1038/gim.2017.154.  , 2018
Link: https://archive-ouverte...
 
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