Possible association of keratoconus progression with gender-affirming hormone therapy: A case report

por Deitel, Carli M., Chen, Kevin H., Uber, Ian C.
Publicado 2023

Li-Fraumeni syndrome: a case report from Italy.

por Orjuela, M., Perilongo, G., Basso, G., Carli, M., Zanesco, L.
Publicado 1990

Rapid Spectral Dynamics in Hippocampal Oscillons

por Zobaer, M. S., Domenico, Carli M., Perotti, Luca, Ji, Daoyun, Dabaghian, Yuri
Publicado 2022

TCF7L1 Regulates LGR5 Expression in Colorectal Cancer Cells

por King, Carli M., Marx, Olivia M., Ding, Wei, Koltun, Walter A., Yochum, Gregory S.
Publicado 2023

Regional, Household and Individual Factors that Influence Soil Transmitted Helminth Reinfection Dynamics in Preschool Children from Rural Indigenous Panamá

por Halpenny, Carli M., Paller, Claire, Koski, Kristine G., Valdés, Victoria E., Scott, Marilyn E.
Publicado 2013

Use of sanger and next-generation sequencing to screen for mosaic and intronic APC variants in unexplained colorectal polyposis patients

por Elsayed, Fadwa A., Tops, Carli M. J., Nielsen, Maartje, Morreau, Hans, Hes, Frederik J., van Wezel, Tom
Publicado 2021

Fiber optic endoscopic optical coherence tomography (OCT) to assess human airways: The relationship between anatomy and physiological function during dynamic exercise

por Peters, Carli M., Molgat‐Seon, Yannick, Dominelli, Paolo B., Lee, Anthony M. D., Lane, Pierre, Lam, Stephen, Sheel, Andrew W.
Publicado 2020

Confinement of volatile radioactivity from an open fission source in a cryotrap

por P.G. Thirolf, W. Carli, M. Gross, A. Kohlhund, H.J. Maier, P. Maier-Komor, F. Nebel, J. Neumayr, R. Stoepler, J. Szerypo
Publicado 20/0

Characterization of a purification system for radioactive vacuum exhaust gases

por P.G. Thirolf, W. Carli, M. Gross, A. Kohlhund, H.J. Maier, P. Maier-Komor, F. Nebel, J. Neumayr, R. Stoepler, J. Szerypo
Publicado 20/0

Low frequency of POLD1 and POLE exonuclease domain variants in patients with multiple colorectal polyps

por Elsayed, Fadwa A., Tops, Carli M. J., Nielsen, Maartje, Ruano, Dina, Vasen, Hans F. A., Morreau, Hans, J. Hes, Frederik, van Wezel, Tom
Publicado 2019

Splicing analysis for exonic and intronic mismatch repair gene variants associated with Lynch syndrome confirms high concordance between minigene assays and patient RNA analyses

por van der Klift, Heleen M, Jansen, Anne M L, van der Steenstraten, Niki, Bik, Elsa C, Tops, Carli M J, Devilee, Peter, Wijnen, Juul T
Publicado 2015

Lung volume recruitment acutely increases respiratory system compliance in individuals with severe respiratory muscle weakness

por Molgat-Seon, Yannick, Hannan, Liam M., Dominelli, Paolo B., Peters, Carli M., Fougere, Renee J., McKim, Douglas A., Sheel, A. William, Road, Jeremy D.
Publicado 2017

Association between Response to Albendazole Treatment and β-Tubulin Genotype Frequencies in Soil-transmitted Helminths

por Diawara, Aïssatou, Halpenny, Carli M., Churcher, Thomas S., Mwandawiro, Charles, Kihara, Jimmy, Kaplan, Ray M., Streit, Thomas G., Idaghdour, Youssef, Scott, Marilyn E., Basáñez, Maria-Gloria, Prichard, Roger K.
Publicado 2013

Constitutional mismatch repair deficiency syndrome with atypical features caused by a homozygous MLH1 missense variant (c.1918C>A, p.(Pro640Thr)): a case report

por Akrout, Firas, Achour, Ahlem, Tops, Carli M. J., Gallon, Richard, Meddeb, Rym, Achoura, Sameh, Ben Rekaya, Mariem, Hamdeni, Emna, Rammeh, Soumaya, Chkili, Ridha, Mansouri, Nada, Belguith, Neila, Mrad, Ridha
Publicado 2023

Gynecological Surveillance and Surgery Outcomes in Dutch Lynch Syndrome Carriers

por Eikenboom, Ellis L., van Doorn, Helena C., Dinjens, Winand N. M., Dubbink, Hendrikus J., Geurts-Giele, Willemina R. R., Spaander, Manon C. W., Tops, Carli M. J., Wagner, Anja, Goverde, Anne
Publicado 2021

The importance of a large sample cohort for studies on modifier genes influencing disease severity in FAP patients

por Talseth-Palmer, Bente A, Wijnen, Juul T, Andreassen, Eva K, Barker, Daniel, Jagmohan-Changur, Shantie, Tops, Carli M, Meldrum, Cliff, Spigelman, Allan, Hes, Frederik J, Van Wezel, Tom, Vasen, Hans FA, Scott, Rodney J
Publicado 2013

Therapeutic hypothermia attenuates physiologic, histologic, and metabolomic markers of injury in a porcine model of acute respiratory distress syndrome

por Angus, Sarah A., Henderson, William R., Banoei, Mohammad M., Molgat‐Seon, Yannick, Peters, Carli M., Parmar, Hanna R., Griesdale, Donald E. G., Sekhon, Mypinder, Sheel, Andrew William, Winston, Brent W., Dominelli, Paolo B.
Publicado 2022

Unexplained mismatch repair deficiency: Case closed

por Eikenboom, Ellis L., Moen, Sarah, van Leeuwen, Lotte, Geurts-Giele, Willemina R.R., Tops, Carli M.J., van Ham, Tjakko J., Dinjens, Winand N.M., Dubbink, Hendrikus J., Spaander, Manon C.W., Wagner, Anja
Publicado 2022

Germ-line variants identified by next generation sequencing in a panel of estrogen and cancer associated genes correlate with poor clinical outcome in Lynch syndrome patients

por Jóri, Balazs, Kamps, Rick, Xanthoulea, Sofia, Delvoux, Bert, Blok, Marinus J., Van de Vijver, Koen K., de Koning, Bart, Oei, Felicia Trups, Tops, Carli M., Speel, Ernst J. M., Kruitwagen, Roy F., Gomez-Garcia, Encarna B., Romano, Andrea
Publicado 2015

MUTYH gene variants and breast cancer in a Dutch case–control study

por Out, Astrid A., Wasielewski, Marijke, Huijts, Petra E. A., van Minderhout, Ivonne J. H. M., Houwing-Duistermaat, Jeanine J., Tops, Carli M. J., Nielsen, Maartje, Seynaeve, Caroline, Wijnen, Juul T., Breuning, Martijn H., van Asperen, Christi J., Schutte, Mieke, Hes, Frederik J., Devilee, Peter
Publicado 2012