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Carolina Martínez Grijalva
Carolina Martínez Grijalva
University of Göttingen
Phenotype
Bioinformatics
Microcephaly
Blood–brain barrier
Hypsarrhythmia
2
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MFSD2A-associated primary microcephaly - Expanding the clinical and mutational spectrum of this ultra-rare disease.
2021
European Journal of Medical Genetics
Katharina Khuller
Gökhan Yigit
Carolina Martínez Grijalva
Janine Altmüller
Holger Thiele
Peter Nürnberg
Nursel H. Elcioglu
Burcu Yeter
Ute Hehr
Anja Stein
Adela Della Marina
Angela Köninger
Christel Depienne
Frank J. Kaiser
Bernd Wollnik
Alma Kuechler
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Phenotypic distinctions of BLM- and RMI1-associated Bloom syndrome
2021
medRxiv
Ipek Ilgin Gonenc
Nursel Elçioğlu
Carolina Martínez Grijalva
Seda Aras
Nadine Grossmann
Inka Praulich
Janine Altmueller
Silke Kaulfuss
Yun Li
Peter Nuernberg
Peter Burfeind
Gökhan Yigit
Bernd Wollnik
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