Isobutyryl‐CoA dehydrogenase deficiency associated with autism in a girl without an alternative genetic diagnosis by trio whole exome sequencing: A case report

por Eleftheriadou, Maria, Medici‐ van den Herik, Evita, Stuurman, Kyra, van Bever, Yolande, Hellebrekers, Debby M. E. I., van Slegtenhorst, Marjon, Ruijter, George, Barakat, Tahsin Stefan
Publicado 2021

De novo TRPV4 Leu619Pro variant causes a new channelopathy characterised by giant cell lesions of the jaws and skull, skeletal abnormalities and polyneuropathy

por Ragamin, Aviel, Gomes, Carolina C, Bindels-de Heus, Karen, Sandoval, Renata, Bassenden, Angelia V, Dib, Luciano, Kok, Fernando, Alves, Julieta, Mathijssen, Irene, Medici-Van den Herik, Evita, Eveleigh, Robert, Gayden, Tenzin, Pullens, Bas, Berghuis, Albert, van Slegtenhorst, Marjon, Wilke, Martina, Jabado, Nada, Mancini, Grazia Maria Simonetta, Gomez, Ricardo Santiago
Publicado 2022

Prevalence of Bladder and Bowel Dysfunction in Duchenne Muscular Dystrophy Using the Childhood Bladder and Bowel Dysfunction Questionnaire

por Lionarons, Judith M., de Groot, Imelda J. M., Fock, Johanna M., Klinkenberg, Sylvia, Vrijens, Desiree M. J., Vreugdenhil, Anita C. E., Medici-van den Herik, Evita G., Cuppen, Inge, Jaeger, Bregje, Niks, Erik H., Hoogerhuis, Rinske, Platte-van Attekum, Nicky, Feron, Frans J. M., Faber, Catharina G., Hendriksen, Jos G. M., Vles, Johan S. H.
Publicado 2021

Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases

por Perenthaler, Elena, Nikoncuk, Anita, Yousefi, Soheil, Berdowski, Woutje M., Alsagob, Maysoon, Capo, Ivan, van der Linde, Herma C., van den Berg, Paul, Jacobs, Edwin H., Putar, Darija, Ghazvini, Mehrnaz, Aronica, Eleonora, van IJcken, Wilfred F. J., de Valk, Walter G., Medici-van den Herik, Evita, van Slegtenhorst, Marjon, Brick, Lauren, Kozenko, Mariya, Kohler, Jennefer N., Bernstein, Jonathan A., Monaghan, Kristin G., Begtrup, Amber, Torene, Rebecca, Al Futaisi, Amna, Al Murshedi, Fathiya, Mani, Renjith, Al Azri, Faisal, Kamsteeg, Erik-Jan, Mojarrad, Majid, Eslahi, Atieh, Khazaei, Zaynab, Darmiyan, Fateme Massinaei, Doosti, Mohammad, Karimiani, Ehsan Ghayoor, Vandrovcova, Jana, Zafar, Faisal, Rana, Nuzhat, Kandaswamy, Krishna K., Hertecant, Jozef, Bauer, Peter, AlMuhaizea, Mohammed A., Salih, Mustafa A., Aldosary, Mazhor, Almass, Rawan, Al-Quait, Laila, Qubbaj, Wafa, Coskun, Serdar, Alahmadi, Khaled O., Hamad, Muddathir H. A., Alwadaee, Salem, Awartani, Khalid, Dababo, Anas M., Almohanna, Futwan, Colak, Dilek, Dehghani, Mohammadreza, Mehrjardi, Mohammad Yahya Vahidi, Gunel, Murat, Ercan-Sencicek, A. Gulhan, Passi, Gouri Rao, Cheema, Huma Arshad, Efthymiou, Stephanie, Houlden, Henry, Bertoli-Avella, Aida M., Brooks, Alice S., Retterer, Kyle, Maroofian, Reza, Kaya, Namik, van Ham, Tjakko J., Barakat, Tahsin Stefan
Publicado 2019