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TRPS1 codon 952 constitutes a mutational hot spot in trichorhinophalangeal syndrome type I and could be associated with intellectual disability. [electronic resource] by
- Sidler, Jan A
- Filges, Isabel
- Boesch, Nemya
- Ramelli, Gian Paolo
- Röthlisberger, Benno
- Huber, Andreas R
- Tercanli, Sevgi
- Bronz, Lucio
- Miny, Peter
- Heinimann, Karl
Producer: 20120709
In:
Clinical dysmorphology vol. 21
Availability: No items available.
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29.
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Exome sequencing of fetal anomaly syndromes: novel phenotype-genotype discoveries. [electronic resource] by
- Meier, Nicole
- Bruder, Elisabeth
- Lapaire, Olav
- Hoesli, Irene
- Kang, Anjeung
- Hench, Jürgen
- Hoeller, Sylvia
- De Geyter, Julie
- Miny, Peter
- Heinimann, Karl
- Chaoui, Rabih
- Tercanli, Sevgi
- Filges, Isabel
Producer: 20200612
In:
European journal of human genetics : EJHG vol. 27
Availability: No items available.
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30.
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DEGUM, ÖGUM, SGUM and FMF Germany Recommendations for the Implementation of First-Trimester Screening, Detailed Ultrasound, Cell-Free DNA Screening and Diagnostic Procedures. [electronic resource] by
- Kozlowski, Peter
- Burkhardt, Tilo
- Gembruch, Ulrich
- Gonser, Markus
- Kähler, Christiane
- Kagan, Karl-Oliver
- von Kaisenberg, Constantin
- Klaritsch, Philipp
- Merz, Eberhard
- Steiner, Horst
- Tercanli, Sevgi
- Vetter, Klaus
- Schramm, Thomas
Producer: 20190801
In:
Ultraschall in der Medizin (Stuttgart, Germany : 1980) vol. 40
Availability: No items available.
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31.
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Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF. [electronic resource] by
- Filges, Isabel
- Bruder, Elisabeth
- Brandal, Kristin
- Meier, Stephanie
- Undlien, Dag Erik
- Waage, Trine Rygvold
- Hoesli, Irene
- Schubach, Max
- de Beer, Tjaart
- Sheng, Ying
- Hoeller, Sylvia
- Schulzke, Sven
- Røsby, Oddveig
- Miny, Peter
- Tercanli, Sevgi
- Oppedal, Truls
- Meyer, Peter
- Selmer, Kaja Kristine
- Strømme, Petter
Publication details: Human mutation 07 2016
In:
Human mutation vol. 37
Availability: No items available.
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32.
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Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF. [electronic resource] by
- Filges, Isabel
- Bruder, Elisabeth
- Brandal, Kristin
- Meier, Stephanie
- Undlien, Dag Erik
- Waage, Trine Rygvold
- Hoesli, Irene
- Schubach, Max
- de Beer, Tjaart
- Sheng, Ying
- Hoeller, Sylvia
- Schulzke, Sven
- Røsby, Oddveig
- Miny, Peter
- Tercanli, Sevgi
- Oppedal, Truls
- Meyer, Peter
- Selmer, Kaja Kristine
- Strømme, Petter
Producer: 20161213
In:
Human mutation vol. 37
Availability: No items available.
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