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Author/Creator Lüdecke, Hermann‐Josef

1. De novo microdeletions and point mutations affecting SOX2 in three individuals with intellectual disability but without major eye malformations. Issue 2 (14th November 2016)

Authors:
Dennert, Nicola; Engels, Hartmut; Cremer, Kirsten; Becker, Jessica; Wohlleber, Eva; Albrecht, Beate; Ehret, Julia K.; Lüdecke, Hermann‐Josef; Suri, Mohnish; Carignani, Giulia; Renieri, Alessandra; Kukuk, Guido M.; Wieland, Thomas; Andrieux, Joris; Strom, Tim M.; Wieczorek, Dagmar; Dieux‐Coëslier,...
Journal:
American journal of medical genetics
Issue:
Volume 173:Issue 2(2017)
Page Start:
435
Record Type:
Journal Article
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2. Delineation of MidXq28‐duplication syndrome distal to MECP2 and proximal to RAB39B genes. Issue 3 (17th June 2019)

Authors:
Sinibaldi, Lorenzo; Parisi, Valentina; Lanciotti, Silvia; Fontana, Paolo; Kuechler, Alma; Baujat, Genevieve; Torres, Barbara; Koetting, Judith; Splendiani, Alessandra; Postorivo, Diana; Beygo, Jasmin; Garaci, Francesco G.; Malan, Valerie; Lüdecke, Hermann‐Josef; Guida, Valentina; Krumbiegel, Mand...
Journal:
Clinical genetics
Issue:
Volume 96:Issue 3(2019)
Page Start:
246
Record Type:
Journal Article
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3. Expanding the spectrum of EEF1D neurodevelopmental disorders: Biallelic variants in the guanine exchange domain. Issue 4 (2nd January 2023)

Authors:
Averdunk, Luisa; Al‐Thihli, Khalid; Surowy, Harald; Lüdecke, Hermann‐Josef; Drechsler, Matthias; Yigit, Gökhan; Smorag, Lukasz; Al Hallak, Bassam; Li, Yun; Altmüller, Janine; Guthoff, Tanja; Wallot, Michael; Nürnberg, Peter; Wollnik, Bernd; Jamra, Rami Abou; Al‐Maawali, Almundher; Wieczorek, Dagmar
Journal:
Clinical genetics
Issue:
Volume 103:Issue 4(2023)
Page Start:
484
Record Type:
Journal Article
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4. Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machinery. Issue 8 (14th June 2018)

Authors:
Kumar, Raman; Gardner, Alison; Homan, Claire C.; Douglas, Evelyn; Mefford, Heather; Wieczorek, Dagmar; Lüdecke, Hermann‐Josef; Stark, Zornitza; Sadedin, Simon; Nowak, Catherine Bearce; Douglas, Jessica; Parsons, Gretchen; Mark, Paul; Loidi, Lourdes; Herman, Gail E.; Mihalic Mosher, Theresa; Gille...
Journal:
Human mutation
Issue:
Volume 39:Issue 8(2018)
Page Start:
1126
Record Type:
Journal Article
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5. Wide clinical variability in conditions with coarse facial features and hypertrichosis caused by mutations in ABCC91. Issue 2 (10th January 2013)

Authors:
Czeschik, Johanna Christina; Voigt, Claudia; Goecke, Timm O.; Lüdecke, Hermann‐Josef; Wagner, Nicholas; Kuechler, Alma; Wieczorek, Dagmar
Journal:
American journal of medical genetics
Issue:
Volume 161:Issue 2(2013:Feb.)
Page Start:
295
Record Type:
Journal Article
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