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Author/Creator Mackenroth, Luisa

1. 6q22.33 microdeletion in a family with intellectual disability, variable major anomalies, and behavioral abnormalities. (3rd September 2015)

Authors:
Mackenroth, Luisa; Hackmann, Karl; Beyer, Anke; Schallner, Jens; Novotna, Barbara; Klink, Barbara; Schröck, Evelin; Di Donato, Nataliya
Journal:
American journal of medical genetics
Issue:
Volume 167:Number 11(2015:Nov.)
Page Start:
2800
Record Type:
Journal Article
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2. An overlapping phenotype of Osteogenesis imperfecta and Ehlers–Danlos syndrome due to a heterozygous mutation in COL1A1 and biallelic missense variants in TNXB identified by whole exome sequencing. Issue 4 (22nd January 2016)

Authors:
Mackenroth, Luisa; Fischer‐Zirnsak, Björn; Egerer, Johannes; Hecht, Jochen; Kallinich, Tilmann; Stenzel, Werner; Spors, Birgit; von Moers, Arpad; Mundlos, Stefan; Kornak, Uwe; Gerhold, Kerstin; Horn, Denise
Journal:
American journal of medical genetics
Issue:
Volume 170:Issue 4(2016)
Page Start:
1080
Record Type:
Journal Article
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3. Interstitial 1q23.3q24.1 deletion in a patient with renal malformation, congenital heart disease, and mild intellectual disability. Issue 9 (3rd June 2016)

Authors:
Mackenroth, Luisa; Hackmann, Karl; Klink, Barbara; Weber, Julia Sara; Mayer, Brigitte; Schröck, Evelin; Tzschach, Andreas
Journal:
American journal of medical genetics
Issue:
Volume 170:Issue 9(2016)
Page Start:
2394
Record Type:
Journal Article
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5. PBX1 haploinsufficiency leads to syndromic congenital anomalies of the kidney and urinary tract (CAKUT) in humans. Issue 7 (7th March 2017)

Authors:
Le Tanno, Pauline; Breton, Julie; Bidart, Marie; Satre, Véronique; Harbuz, Radu; Ray, Pierre F; Bosson, Caroline; Dieterich, Klaus; Jaillard, Sylvie; Odent, Sylvie; Poke, Gemma; Beddow, Rachel; Digilio, Maria Christina; Novelli, Antonio; Bernardini, Laura; Pisanti, Maria Antonietta; Mackenroth, L...
Journal:
Journal of medical genetics
Issue:
Volume 54:Issue 7(2017)
Page Start:
502
Record Type:
Journal Article
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7. Skewed X‐inactivation in a family with DLG3‐associated X‐linked intellectual disability. Issue 9 (4th August 2017)

Authors:
Gieldon, Laura; Mackenroth, Luisa; Betcheva‐Krajcir, Elitza; Rump, Andreas; Beck‐Wödl, Stefanie; Schallner, Jens; Di Donato, Nataliya; Schröck, Evelin; Tzschach, Andreas
Journal:
American journal of medical genetics
Issue:
Volume 173:Issue 9(2017)
Page Start:
2545
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗