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Author/Creator Miny, Peter

1. Rothmund–Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene. Issue 3 (24th February 2016)

Authors:
Suter, Aude‐Annick; Itin, Peter; Heinimann, Karl; Ahmed, Munaza; Ashraf, Tazeen; Fryssira, Helen; Kini, Usha; Lapunzina, Pablo; Miny, Peter; Sommerlund, Mette; Suri, Mohnish; Vaeth, Signe; Vasudevan, Pradeep; Gallati, Sabina
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 4:Issue 3(2016)
Page Start:
359
Record Type:
Journal Article
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3. Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel–Giedion syndrome. Issue 2 (30th October 2010)

Authors:
Filges, Isabel; Shimojima, Keiko; Okamoto, Nobuhiko; Röthlisberger, Benno; Weber, Peter; Huber, Andreas R; Nishizawa, Tsutomu; Datta, Alexandre N; Miny, Peter; Yamamoto, Toshiyuki
Journal:
Journal of medical genetics
Issue:
Volume 48:Issue 2(2011)
Page Start:
117
Record Type:
Journal Article
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4. Parental origin and mechanisms of formation of cytogenetically recognisable de novo direct and inverted duplications. Issue 4 (1st April 2000)

Authors:
Kotzot, Dieter; Martinez, Maria-Jose; Bagci, Gulseren; Basaran, Seher; Baumer, Alessandra; Binkert, Franz; Brecevic, Lucrecja; Castellan, Claudio; Chrzanowska, Krystyna; Dutly, Fabrizio; Gutkowska, Anna; Karaüzüm, Sibel Berker; Krajewska-Walasek, Malgorzata; Luleci, Guven; Miny, Peter; Riegel, Ma...
Journal:
Journal of medical genetics
Issue:
Volume 37:Issue 4(2000)
Page Start:
281
Record Type:
Journal Article
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5. Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF. Issue 4 (9th February 2016)

Authors:
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 Kri...
Journal:
Human mutation
Issue:
Volume 37:Issue 4(2016)
Page Start:
359
Record Type:
Journal Article
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6. Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF. Issue 7 (15th April 2016)

Authors:
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 Kri...
Journal:
Human mutation
Issue:
Volume 37:Issue 7(2016)
Page Start:
711
Record Type:
Journal Article
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7. Microdeletions in 9q33.3-q34.11 in five patients with intellectual disability, microcephaly, and seizures of incomplete penetrance: is STXBP1 not the only causative gene?. Issue 1 (December 2015)

Authors:
Ehret, Julia; Engels, Hartmut; Cremer, Kirsten; Becker, Jessica; Zimmermann, Johannes; Wohlleber, Eva; Grasshoff, Ute; Rossier, Eva; Bonin, Michael; Mangold, Elisabeth; Bevot, Andrea; Schön, Stefanie; Heilmann-Heimbach, Stefanie; Dennert, Nicola; Mathieu-Dramard, Michèle; Lacaze, Elodie; Plessis,...
Journal:
Molecular cytogenetics
Issue:
Volume 8:Issue 1(2015)
Page Start:
1
Record Type:
Journal Article
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