p63, a Story of Mice and Men
Vanbokhoven, Hans, Melino, Gerry, Candi, Eleonora, Declercq, Wim
Published in Journal of investigative dermatology (01.06.2011)
Published in Journal of investigative dermatology (01.06.2011)
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Journal Article
Biallelic loss of EMC10 leads to mild to severe intellectual disability
Kaiyrzhanov, Rauan, Rocca, Clarissa, Suri, Mohnish, Gulieva, Sughra, Zaki, Maha S., Henig, Noa Z., Siquier, Karine, Guliyeva, Ulviyya, Mounir, Samir M., Marom, Daphna, Allahverdiyeva, Aynur, Megahed, Hisham, Bokhoven, Hans, Cantagrel, Vincent, Rad, Aboulfazl, Pourkeramti, Alemeh, Dehghani, Boshra, Shao, Diane D., Markus‐Bustani, Keren, Sofrin‐Drucker, Efrat, Orenstein, Naama, Salayev, Kamran, Arrigoni, Filippo, Houlden, Henry, Maroofian, Reza
Published in Annals of clinical and translational neurology (01.07.2022)
Published in Annals of clinical and translational neurology (01.07.2022)
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A de novo variant in the X‐linked gene CNKSR2 is associated with seizures and mild intellectual disability in a female patient
Polla, Daniel L., Saunders, Harriet R., Vries, Bert B. A., Bokhoven, Hans, Brouwer, Arjan P. M.
Published in Molecular genetics & genomic medicine (01.10.2019)
Published in Molecular genetics & genomic medicine (01.10.2019)
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Journal Article
International Research Symposium on Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate (AEC) Syndrome
Fete, Mary, vanBokhoven, Hans, Clements, Suzanne E., McKeon, Frank, Roop, Dennis R., Koster, Maranke I., Missero, Caterina, Attardi, Laura D., Lombillo, Vivian A., Ratovitski, Edward, Julapalli, Meena, Ruths, Derek, Sybert, Virginia P., Siegfried, Elaine C., Bree, Alanna F.
Published in American journal of medical genetics. Part A (01.09.2009)
Published in American journal of medical genetics. Part A (01.09.2009)
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Journal Article
Conference Proceeding
Conference Report: International Research Symposium on Ankyloblepharon-Ectodermal Defects-Cleft Lip and/or Palate (AEC) Syndrome
Fete, Mary, vanBokhoven, Hans, Clements, Suzanne, McKeon, Frank, Roop, Dennis R., Koster, Maranke I., Missero, Caterina, Attardi, Laura D., Lombillo, Vivian A., Ratovitski, Edward, Julapalli, Meena, Ruths, Derek, Sybert, Virginia P., Siegfried, Elaine C., Bree, Alanna F.
Published in American journal of medical genetics. Part A (01.09.2009)
Published in American journal of medical genetics. Part A (01.09.2009)
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Journal Article