P Kroisel - Med Univ | 人才画像

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论文共 31 篇作者统计合作学者相似作者

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Wes Expands The Mutational Spectrum In Patients With Silver-Russell Syndrome Features

R. Meyer,M. Begemann, C. Huebner, D. Dey,A. Kuechler,M. Elgizouli,P. Kroisel,G. Fekete,L. Ambrozaityte,A. Matuleviciene,M. Elbracht,T. Eggermann

EUROPEAN JOURNAL OF HUMAN GENETICS（2020）

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VP01.03: Placental Sonomorphology As Diagnostic Hint for Triploidy in the Second Trimester

A. Schuetz,R. Hochstätter,N. Taumberger,P. Greimel,P. Klaritsch,J. Gellen,B. Csapo,E. Kampelmuhler,P. Kroisel

Ultrasound in Obstetrics &amp Gynecologyno. S1 (2020): 57-57

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Morbidity risk of chromosomal breakpoints in topological domains enriched in non-exonic conserved elements

M. Bak,A. Fonseca,M. Mehrjouy,M. Rasmussen,C. Halgren,I. Bache,P. Kroisel,S. Midyan,J. Vermeesch, A. Vienna-Morgante, K. Abe,D. Moretti-Ferreira,L. Angelova,E. Rajcan-Separovic,C. Sismani,C. Aristidou,Z. Sedlacek,C. Fagerberg,K. Brondum-Nielsen,I. Vogel,A. Bojesen,K. Ounap,L. Roht,J. Lespinasse,C. Beneteau,V. Kalscheuer,N. Ehmke,C. Daumer-Haas, E. Stefanou,M. Czako,F. Sheth,C. Bonaglia,A. Novelli,M. Fannemel, J. Engelen, A. Travessa,N. Kokalj-Vokac,M. Ramos-Arroyo,L. R. Martinez,M. Guitart,A. Schinzel,F. Silan,C. de Almeida, Y. Akkari, J. Batanian,H. Kim,P. Jacky,N. Tommerup

EUROPEAN JOURNAL OF HUMAN GENETICS（2018）

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Interpretation of NGS-mapped chromosomal breakpoints: The importance of healthy controls

N. Tommerup,M. Mehrjouy,M. Rasmussen,I. Bache,C. Halgren,P. Kroisel,S. Midyan,J. Vermeesch, A. Vienna-Morgante,A. Fonseca, K. T. Abe,D. Moretti-Ferreira,L. Angelova,E. Rajcan-Separovic,C. Sismani,C. Aristidou,Z. Sedlacek,C. Fagerberg,K. Brondum-Nielsen,I. Vogel,A. Bojesen,K. Ounap,L. Roht,J. Lespinasse,C. Beneteau,V. Kalscheuer,N. Ehmke,C. Daumer-Haas, E. Stefanou,M. Czako,F. Sheth,C. Bonaglia,A. Novelli,M. Fannemel, J. Engelen, A. Travessa,N. Kokalj-Vokac,M. Ramos-Arroyo,L. R. Martinez,M. Guitart,A. Schinzel,F. Silan,C. de Almeida, Y. Akkari, J. Batanian,H. Kim,P. Jacky,M. Bak

EUROPEAN JOURNAL OF HUMAN GENETICS（2018）

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Interruption of the AG-exclusion zone is the major mechanisms of 90 non-canonical NF1 3 ' splice-site mutations: lessons to learn for intronic unclassified variants

K. Wimmer,E. Schamschula,A. Wernstedt,P. Kroisel, P. Traunfellner,A. Amberger,T. Callens,L. Messiaen

EUROPEAN JOURNAL OF HUMAN GENETICS（2018）

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177 VPS33B Mutations Cause ARKID Syndrome Affecting Rab Protein Interaction, Collagen Modification and Epidermal Structure

R. Gruber,C. Rogerson,C. Windpassinger,R. Strohal,M. Schmuth,P. Kroisel,A. R. Janecke,P. Gissen

Journal of Investigative Dermatology（2017）

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Sehr Seltene Erkrankung Eines Stüve-Wiedemann-Syndroms Bei Einem Neugeborenen

U Wanz,J Pansy, C Binder-Heschl,F Lindbichler,P Kroisel,B Urlesberger,B Resch

Zeitschrift für Geburtshilfe und Neonatologie（2017）

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P19.21: Successful Laser Coagulation for Twin‐to‐twin Transfusion Syndrome and Occurrence of Linear Nevus Sebaceous Syndrome in One Monochorionic Twin

H. Hubmann,C. Sommer,B. Resch,S. Kaddu,P. Kroisel,B. Csapo,M. Haeusler,P. Klaritsch

Ultrasound in Obstetrics &amp Gynecologyno. S1 (2014): 303-303

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Discordant Schimmelpenning-Feuerstein-Mims Syndrome in Monozygotic Twins after Successful Laser Coagulation for Twin-to-twin Transfusion Syndrome

H Hubmann,C Sommer,S Kaddu,P Kroisel,M Kollmann,M Haeusler,B Csapo,B Urlesberger,P Klaritsch

Ultraschall in der Medizin - European Journal of Ultrasoundno. S 01 (2013)

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Mental Retardation in a Girl with a Subtelomeric 20q Deletion and Loss of the Myelin Transcription Factor 1 (MYT1)

T Kröpfl,B Plecko,T Schwarzbraun,P Kroisel,E Petek

Neuropediatrics（2006）

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