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Abnormal centrosome and spindle morphology in a patient with autosomal recessive primary microcephaly type 2 due to compound heterozygous WDR62 gene mutation. [electronic resource] by
- Farag, Heba Gamal
- Froehler, Sebastian
- Oexle, Konrad
- Ravindran, Ethiraj
- Schindler, Detlev
- Staab, Timo
- Huebner, Angela
- Kraemer, Nadine
- Chen, Wei
- Kaindl, Angela M
Producer: 20140717
In:
Orphanet journal of rare diseases vol. 8
Availability: No items available.
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Combined immunodeficiency develops with age in Immunodeficiency-centromeric instability-facial anomalies syndrome 2 (ICF2). [electronic resource] by
- von Bernuth, Horst
- Ravindran, Ethiraj
- Du, Hang
- Fröhler, Sebastian
- Strehl, Karoline
- Krämer, Nadine
- Issa-Jahns, Lina
- Amulic, Borko
- Ninnemann, Olaf
- Xiao, Mei-Sheng
- Eirich, Katharina
- Kölsch, Uwe
- Hauptmann, Kathrin
- John, Rainer
- Schindler, Detlev
- Wahn, Volker
- Chen, Wei
- Kaindl, Angela M
Producer: 20160209
In:
Orphanet journal of rare diseases vol. 9
Availability: No items available.
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Homozygous ARHGEF2 mutation causes intellectual disability and midbrain-hindbrain malformation. [electronic resource] by
- Ravindran, Ethiraj
- Hu, Hao
- Yuzwa, Scott A
- Hernandez-Miranda, Luis R
- Kraemer, Nadine
- Ninnemann, Olaf
- Musante, Luciana
- Boltshauser, Eugen
- Schindler, Detlev
- Hübner, Angela
- Reinecker, Hans-Christian
- Ropers, Hans-Hilger
- Birchmeier, Carmen
- Miller, Freda D
- Wienker, Thomas F
- Hübner, Christoph
- Kaindl, Angela M
Producer: 20170601
In:
PLoS genetics vol. 13
Availability: No items available.
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