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Author/Creator Krawitz, Peter M.

1. Advances in computer‐assisted syndrome recognition by the example of inborn errors of metabolism. Issue 3 (5th April 2018)

Authors:
Pantel, Jean T.; Zhao, Max; Mensah, Martin A.; Hajjir, Nurulhuda; Hsieh, Tzung‐Chien; Hanani, Yair; Fleischer, Nicole; Kamphans, Tom; Mundlos, Stefan; Gurovich, Yaron; Krawitz, Peter M.
Journal:
Journal of inherited metabolic disease
Issue:
Volume 41:Issue 3(2018)
Page Start:
533
Record Type:
Journal Article
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2. Extending the allelic spectrum at noncoding risk loci of orofacial clefting. Issue 8 (3rd June 2021)

Authors:
Thieme, Frederic; Henschel, Leonie; Hammond, Nigel L.; Ishorst, Nina; Hausen, Jonas; Adamson, Antony D.; Biedermann, Angelika; Bowes, John; Zieger, Hanna K.; Maj, Carlo; Kruse, Teresa; Buness, Andreas; Hoischen, Alexander; Gilissen, Christian; Kreusch, Thomas; Jäger, Andreas; Gölz, Lina; Braumann...
Journal:
Human mutation
Issue:
Volume 42:Issue 8(2021)
Page Start:
1066
Record Type:
Journal Article
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3. Next‐generation phenotyping contributing to the identification of a 4.7 kb deletion in KANSL1 causing Koolen‐de Vries syndrome. Issue 11 (2nd October 2022)

Authors:
Brand, Fabian; Vijayananth, Aswinkumar; Hsieh, Tzung‐Chien; Schmidt, Axel; Peters, Sophia; Mangold, Elisabeth; Cremer, Kirsten; Bender, Tim; Sivalingam, Sugirthan; Hundertmark, Hela; Knaus, Alexej; Engels, Hartmut; Krawitz, Peter M.; Perne, Claudia
Other Names:
Scott Stuart A. guestEditor.; Wang Kai guestEditor.; Spinner Nancy B. guestEditor.
Journal:
Human mutation
Issue:
Volume 43:Issue 11(2022)
Page Start:
1659
Record Type:
Journal Article
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4. Perspectives on the future of dysmorphology. Issue 3 (9th December 2022)

Authors:
Solomon, Benjamin D.; Adam, Margaret P.; Fong, Chin‐To; Girisha, Katta M.; Hall, Judith G.; Hurst, Anna C. E.; Krawitz, Peter M.; Moosa, Shahida; Phadke, Shubha R.; Tekendo‐Ngongang, Cedrik; Wenger, Tara L.
Journal:
American journal of medical genetics
Issue:
Volume 191:Issue 3(2023)
Page Start:
659
Record Type:
Journal Article
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5. Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome. Issue 8 (19th May 2016)

Authors:
Knaus, Alexej; Awaya, Tomonari; Helbig, Ingo; Afawi, Zaid; Pendziwiat, Manuela; Abu‐Rachma, Jubran; Thompson, Miles D.; Cole, David E.; Skinner, Steve; Annese, Fran; Canham, Natalie; Schweiger, Michal R.; Robinson, Peter N.; Mundlos, Stefan; Kinoshita, Taroh; Munnich, Arnold; Murakami, Yoshiko; H...
Journal:
Human mutation
Issue:
Volume 37:Issue 8(2016)
Page Start:
737
Record Type:
Journal Article
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7. Screening for single nucleotide variants, small indels and exon deletions with a next‐generation sequencing based gene panel approach for Usher syndrome. Issue 5 (15th June 2014)

Authors:
Krawitz, Peter M.; Schiska, Daniela; Krüger, Ulrike; Appelt, Sandra; Heinrich, Verena; Parkhomchuk, Dmitri; Timmermann, Bernd; Millan, Jose M.; Robinson, Peter N.; Mundlos, Stefan; Hecht, Jochen; Gross, Manfred
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 2:Issue 5(2014:Sep.)
Page Start:
393
Record Type:
Journal Article
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