Auflistung nach Autor "Grimmel, Mona"

A single center experience of prenatal parent-fetus trio exome sequencing for pregnancies with congenital anomalies

Dufke, Andreas; Hoopmann, Markus; Grasshoff, Ute; Heinrich, Tilman; Riess, Angelika; Kehrer, Martin; Liebmann, Alexandra; Roggia, Cristiana; Stampfer, Miriam; Schadeck, Malou; Grimmel, Mona; Gauck, Darja; Baumann, Sarah; Bertrand, Miriam; Menden, Benita; Sturm, Marc; Schütz, Leon; Ossowski, Stephan; Kagan, Karl Oliver; Waldmüller, Stephan; Prodan, Natalia; Beck-Wödl, Stefanie; Falb, Ruth; Müller, Amelie Johanna; Stöbe, Petra; Buchert, Rebecca; Schäferhoff, Karin; Rieß, Olaf; Haack, Tobias (2022)

ATG-18 and EPG-6 are Both Required for Autophagy but Differentially Contribute to Lifespan Control in Caenorhabditis elegans

Takács, Zsuzsanna; Sporbeck, Katharina; Stöckle, Jennifer; Prado Carvajal, Maria Jhaneth; Grimmel, Mona; Proikas-Cezanne, Tassula (2019)

Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia

Grimmel, Mona; Bevot, Andrea; Buchert, Rebecca; Laugwitz, Lucia; Sturm, Marc; Döbler-Neumann, Marion; Beck-Wödl, Stefanie; Müller, Amelie Johanna; Nägele, Thomas; Rieß, Olaf; Krägeloh-Mann, Ingeborg; Haack, Tobias (2020)

Bi-allelic loss-of-function variants in KIF21A cause severe fetal akinesia with arthrogryposis multiplex

Grimmel, Mona; Grasshoff, Ute; Gauck, Darja; Heinrich, Tilman; Prodan, Natalia; Park, Joohyun; Kehrer, Martin; Sturm, Marc; Kelemen, Olga; Haen, Susanne; Hoopmann, Markus; Ossowski, Stephan; Dufke, Andreas; Falb, Ruth; Müller, Amelie Johanna; Stöbe, Petra; Waldmüller, Stephan; Beck-Wödl, Stefanie; Rieß, Olaf; Kagan, Karl Oliver; Haack, Tobias (2023)

Bi-allelic truncating mutations in VWA1 cause neuromyopathy

Hengel, Holger; Grimmel, Mona; Admard, Jakob; Gazou, Anastasia; Sturm, Marc; Schöls, Ludger; Rieß, Olaf; Haack, Tobias (2021)

Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss

Grossmann, Benita; Grimmel, Mona; Grasshoff, Ute; LRad, Aboulfaz; Vona, Barbara; Haack, Tobias (2021-10-07)

Clustered variants in the 5 ' coding region of TRA2B cause a distinctive neurodevelopmental syndrome

Grimmel, Mona; Lebrun, Marine; Witt, Dennis; Haack, Tobias; Bertrand, Miriam (2023)

De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects

Grimmel, Mona; Haack, Tobias (2020)

De novo FBXO11 mutations are associated with intellectual disability and behavioural anomalies

Grimmel, Mona; Sturm, Marc; Beck-Wödl, Stefanie; Haack, Tobias (2018)

Expansion of the phenotypic and molecular spectrum of CWF19L1-related disorder

Grimmel, Mona; Deininger, Natalie; Riess, Angelika; Haack, Tobias (2023)

Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition

Grimmel, Mona; Haack, Tobias (2023)

Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy

Buchert, Rebecca; Grimmel, Mona; Haack, Tobias (2022)

Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes

Laugwitz, Lucia; Peralta, Susana; Kienzle, Imke; Buchert, Rebecca; Falb, Ruth; Gauck, Darja; Grimmel, Mona; Kern, Jan; Müller, Amelie Johanna; Beck-Wödl, Stefanie; Gröschel, Samuel; Krägeloh-Mann, Ingeborg; Haack, Tobias (2022)

Identification and Characterization of a Novel Splice Site Mutation Associated with Glycogen Storage Disease Type VI in Two Unrelated Turkish Families

Beck-Wödl, Stefanie; Grimmel, Mona; Bertrand, Miriam; Haack, Tobias (2021)

KCNC1-related disorders: new de novo variants expand the phenotypic spectrum

Park, Joohyun; Koko, Mahmoud; Hedrich, Ulrike B. S.; Grimmel, Mona; Beck-Wödl, Stefanie; Harrer, Merle; Sturm, Marc; Wolff, Markus; Lerche, Holger; Haack, Tobias (2019)

Novel HIVEP2 Variants in Patients with Intellectual Disability

Park, Joohyun; Grimmel, Mona; Sturm, Marc; Grasshoff, Ute; Dufke, Andreas; Kehrer, Martin; Schäferhoff, Karin; Haack, Tobias (2019)

Pontocerebellar hypoplasia type 11: Does the genetic defect determine timing of cerebellar pathology?

Laugwitz, Lucia; Buchert, Rebecca; Grimmel, Mona; Sturm, Marc; Gohla, Georg; Gröschel, Samuel; Riess, Angelika; Beck-Wödl, Stefanie; Döbler-Neumann, Marion; Krägeloh-Mann, Ingeborg; Haack, Tobias (2020)

Resolution of severe hepatosteatosis in a cystic fibrosis patient with multifactorial choline deficiency: A case report

Bernhard, Wolfgang; Shunova, Anna; Grimmel, Mona; Graepler-Mainka, Ute; Machann, Jürgen; Haack, Tobias; Utz, Philipp Michael (2021)

WIPI-Mediated Autophagy and Longevity

Grimmel, Mona; Backhaus, Charlotte; Proikas-Cezanne, Tassula (2015)

Zonisamide-responsive myoclonus in SEMA6B-associated progressive myoclonic epilepsy

Grimmel, Mona; Haack, Tobias (2021)

Auflistung nach Autor "Grimmel, Mona"

Auflistung nach Autor "Grimmel, Mona"

Stöbern

Gesamter Bestand

Mein Benutzerkonto

Hilfe & Infos