Ovarian volume and antral follicle count for the prediction of low and hyper responders with in vitro fertilization

بواسطة Kwee, Janet, Elting, Mariet E, Schats, Roel, McDonnell, Joseph, Lambalk, Cornelis B
منشور في 2007

Collagen transport and related pathways in Osteogenesis Imperfecta

بواسطة Claeys, Lauria, Storoni, Silvia, Eekhoff, Marelise, Elting, Mariet, Wisse, Lisanne, Pals, Gerard, Bravenboer, Nathalie, Maugeri, Alessandra, Micha, Dimitra
الحاوية / القاعدة Hum Genet (2021)

A common pathomechanism in GMAP-210– and LBR-related diseases

بواسطة Wehrle, Anika, Witkos, Tomasz M., Schneider, Judith C., Hoppmann, Anselm, Behringer, Sidney, Köttgen, Anna, Elting, Mariet, Spranger, Jürgen, Lowe, Martin, Lausch, Ekkehart
الحاوية / القاعدة JCI Insight (2018)

Reflecting on Earlier Experiences with Unsolicited Findings: Points to Consider for Next-Generation Sequencing and Informed Consent in Diagnostics

بواسطة Rigter, Tessel, Henneman, Lidewij, Kristoffersson, Ulf, Hall, Alison, Yntema, Helger G, Borry, Pascal, Tönnies, Holger, Waisfisz, Quinten, Elting, Mariet W, Dondorp, Wybo J, Cornel, Martina C
الحاوية / القاعدة Hum Mutat (2013)

Toward clinical and molecular understanding of pathogenic variants in the ZBTB18 gene

بواسطة van der Schoot, Vyne, de Munnik, Sonja, Venselaar, Hanka, Elting, Mariet, Mancini, Grazia M. S., Ravenswaaij‐Arts, Conny M. A., Anderlid, Britt‐Marie, Brunner, Han G., Stevens, Servi J. C.
الحاوية / القاعدة Mol Genet Genomic Med (2018)

Genotype–Phenotype Correlation in DFNB8/10 Families with TMPRSS3 Mutations

بواسطة Weegerink, Nicole J. D., Schraders, Margit, Oostrik, Jaap, Huygen, Patrick L. M., Strom, Tim M., Granneman, Susanne, Pennings, Ronald J. E., Venselaar, Hanka, Hoefsloot, Lies H., Elting, Mariet, Cremers, Cor W. R. J., Admiraal, Ronald J. C., Kremer, Hannie, Kunst, Henricus P. M.
منشور في 2011

De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizures

بواسطة Horn, Susanne, Au, Margaret, Basel-Salmon, Lina, Bayrak-Toydemir, Pinar, Chapin, Alexander, Cohen, Lior, Elting, Mariet W, Graham, John M, Gonzaga-Jauregui, Claudia, Konen, Osnat, Holzer, Max, Lemke, Johannes, Miller, Christine E, Rey, Linda K, Wolf, Nicole I, Weiss, Marjan M, Waisfisz, Quinten, Mirzaa, Ghayda M, Wieczorek, Dagmar, Sticht, Heinrich, Abou Jamra, Rami
الحاوية / القاعدة Brain (2019)

Usefulness of NGS for Diagnosis of Dominant Beta-Thalassemia and Unstable Hemoglobinopathies in Five Clinical Cases

بواسطة Rizzuto, Valeria, Koopmann, Tamara T., Blanco-Álvarez, Adoración, Tazón-Vega, Barbara, Idrizovic, Amira, Díaz de Heredia, Cristina, Del Orbe, Rafael, Pampliega, Miriam Vara, Velasco, Pablo, Beneitez, David, Santen, Gijs W. E., Waisfisz, Quinten, Elting, Mariet, Smiers, Frans J. W., de Pagter, Anne J., Kerkhoffs, Jean-Louis H., Harteveld, Cornelis L., Mañú-Pereira, Maria del Mar
الحاوية / القاعدة Front Physiol (2021)

Genetic Overlap in Kallmann Syndrome, Combined Pituitary Hormone Deficiency, and Septo-Optic Dysplasia

بواسطة Raivio, Taneli, Avbelj, Magdalena, McCabe, Mark J., Romero, Christopher J., Dwyer, Andrew A., Tommiska, Johanna, Sykiotis, Gerasimos P., Gregory, Louise C., Diaczok, Daniel, Tziaferi, Vaitsa, Elting, Mariet W., Padidela, Raja, Plummer, Lacey, Martin, Cecilia, Feng, Bihua, Zhang, Chengkang, Zhou, Qun-Yong, Chen, Huaibin, Mohammadi, Moosa, Quinton, Richard, Sidis, Yisrael, Radovick, Sally, Dattani, Mehul T., Pitteloud, Nelly
منشور في 2012

PPIB Mutations Cause Severe Osteogenesis Imperfecta

بواسطة van Dijk, Fleur S., Nesbitt, Isabel M., Zwikstra, Eline H., Nikkels, Peter G.J., Piersma, Sander R., Fratantoni, Silvina A., Jimenez, Connie R., Huizer, Margriet, Morsman, Alice C., Cobben, Jan M., van Roij, Mirjam H.H., Elting, Mariet W., Verbeke, Jonathan I.M.L., Wijnaendts, Liliane C.D., Shaw, Nick J., Högler, Wolfgang, McKeown, Carole, Sistermans, Erik A., Dalton, Ann, Meijers-Heijboer, Hanne, Pals, Gerard
منشور في 2009

Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imaging

بواسطة Deden, Chantal, Neveling, Kornelia, Zafeiropopoulou, Dimitra, Gilissen, Christian, Pfundt, Rolph, Rinne, Tuula, de Leeuw, Nicole, Faas, Brigitte, Gardeitchik, Thatjana, Sallevelt, Suzanne C. E. H., Paulussen, Aimee, Stevens, Servi J. C., Sikkel, Esther, Elting, Mariet W., van Maarle, Merel C., Diderich, Karin E. M., Corsten‐Janssen, Nicole, Lichtenbelt, Klaske D., Lachmeijer, Guus, Vissers, Lisenka E. L. M., Yntema, Helger G., Nelen, Marcel, Feenstra, Ilse, van Zelst‐Stams, Wendy A. G.
الحاوية / القاعدة Prenat Diagn (2020)

KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia

بواسطة Pennings, Maartje, Schouten, Meyke I., van Gaalen, Judith, Meijer, Rowdy P. P., de Bot, Susanne T., Kriek, Marjolein, Saris, Christiaan G. J., van den Berg, Leonard H., van Es, Michael A., Zuidgeest, Dick M. H., Elting, Mariet W., van de Kamp, Jiddeke M., van Spaendonck-Zwarts, Karin Y., Die-Smulders, Christine de, Brilstra, Eva H., Verschuuren, Corien C., de Vries, Bert B. A., Bruijn, Jacques, Sofou, Kalliopi, Duijkers, Floor A., Jaeger, B., Schieving, Jolanda H., van de Warrenburg, Bart P., Kamsteeg, Erik-Jan
الحاوية / القاعدة Eur J Hum Genet (2019)

ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3

بواسطة Hoff, Sylvia, Halbritter, Jan, Epting, Daniel, Frank, Valeska, Nguyen, Thanh-Minh T., van Reeuwijk, Jeroen, Boehlke, Christopher, Schell, Christoph, Yasunaga, Takayuki, Helmstädter, Martin, Mergen, Miriam, Filhol, Emilie, Boldt, Karsten, Horn, Nicola, Ueffing, Marius, Otto, Edgar A., Eisenberger, Tobias, Elting, Mariet W., van Wijk, Joanna A.E., Bockenhauer, Detlef, Sebire, Neil J., Rittig, Søren, Vyberg, Mogens, Ring, Troels, Pohl, Martin, Pape, Lars, Neuhaus, Thomas J., Soliman Elshakhs, Neveen A., Koon, Sarah J., Harris, Peter C., Grahammer, Florian, Huber, Tobias B., Kuehn, E. Wolfgang, Kramer-Zucker, Albrecht, Bolz, Hanno J., Roepman, Ronald, Saunier, Sophie, Walz, Gerd, Hildebrandt, Friedhelm, Bergmann, Carsten, Lienkamp, Soeren S.
منشور في 2013

Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy

بواسطة Madeo, Marianna, Stewart, Michelle, Sun, Yuyang, Sahir, Nadia, Wiethoff, Sarah, Chandrasekar, Indra, Yarrow, Anna, Rosenfeld, Jill A., Yang, Yaping, Cordeiro, Dawn, McCormick, Elizabeth M., Muraresku, Colleen C., Jepperson, Tyler N., McBeth, Lauren J., Seidahmed, Mohammed Zain, El Khashab, Heba Y., Hamad, Muddathir, Azzedine, Hamid, Clark, Karl, Corrochano, Silvia, Wells, Sara, Elting, Mariet W., Weiss, Marjan M., Burn, Sabrina, Myers, Angela, Landsverk, Megan, Crotwell, Patricia L., Waisfisz, Quinten, Wolf, Nicole I., Nolan, Patrick M., Padilla-Lopez, Sergio, Houlden, Henry, Lifton, Richard, Mane, Shrikant, Singh, Brij B., Falk, Marni J., Mercimek-Mahmutoglu, Saadet, Bilguvar, Kaya, Salih, Mustafa A., Acevedo-Arozena, Abraham, Kruer, Michael C.
الحاوية / القاعدة Am J Hum Genet (2016)

KAT6A Syndrome: Genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants

بواسطة Kennedy, Joanna, Goudie, David, Blair, Edward, Chandler, Kate, Joss, Shelagh, McKay, Victoria, Green, Andrew, Armstrong, Ruth, Lees, Melissa, Kamien, Benjamin, Hopper, Bruce, Tan, Tiong Yang, Yap, Patrick, Stark, Zornitza, Okamoto, Nobuhiko, Miyake, Noriko, Matsumoto, Naomichi, Macnamara, Ellen, Murphy, Jennifer L., McCormick, Elizabeth, Hakonarson, Hakon, Falk, Marni J., Li, Dong, Blackburn, Patrick, Klee, Eric, Babovic-Vuksanovic, Dusica, Schelley, Susan, Hudgins, Louanne, Kant, Sarina, Isidor, Bertrand, Cogne, Benjamin, Bradbury, Kimberley, Williams, Mark, Patel, Chirag, Heussler, Helen, Duff-Farrier, Celia, Lakeman, Phillis, Scurr, Ingrid, Kini, Usha, Elting, Mariet, Reijnders, Margot, Schuurs-Hoeijmakers, Janneke, Wafik, Mohamed, Blomhoff, Anne, Ruivenkamp, Claudia A.L., Nibbeling, Esther, Dingemans, Alexander J.M., Douine, Emilie D., Nelson, Stanley F., Arboleda, Valerie A., Newbury-Ecob, Ruth
الحاوية / القاعدة Genet Med (2018)

Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum

بواسطة Motta, Marialetizia, Pannone, Luca, Pantaleoni, Francesca, Bocchinfuso, Gianfranco, Radio, Francesca Clementina, Cecchetti, Serena, Ciolfi, Andrea, Di Rocco, Martina, Elting, Mariet W., Brilstra, Eva H., Boni, Stefania, Mazzanti, Laura, Tamburrino, Federica, Walsh, Larry, Payne, Katelyn, Fernández-Jaén, Alberto, Ganapathi, Mythily, Chung, Wendy K., Grange, Dorothy K., Dave-Wala, Ashita, Reshmi, Shalini C., Bartholomew, Dennis W., Mouhlas, Danielle, Carpentieri, Giovanna, Bruselles, Alessandro, Pizzi, Simone, Bellacchio, Emanuele, Piceci-Sparascio, Francesca, Lißewski, Christina, Brinkmann, Julia, Waclaw, Ronald R., Waisfisz, Quinten, van Gassen, Koen, Wentzensen, Ingrid M., Morrow, Michelle M., Álvarez, Sara, Martínez-García, Mónica, De Luca, Alessandro, Memo, Luigi, Zampino, Giuseppe, Rossi, Cesare, Seri, Marco, Gelb, Bruce D., Zenker, Martin, Dallapiccola, Bruno, Stella, Lorenzo, Prada, Carlos E., Martinelli, Simone, Flex, Elisabetta, Tartaglia, Marco
الحاوية / القاعدة Am J Hum Genet (2020)

Erratum to: Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients

بواسطة Hoornaert, Kristien P, Vereecke, Inge, Dewinter, Chantal, Rosenberg, Thomas, Beemer, Frits A, Leroy, Jules G, Bendix, Laila, Björck, Erik, Bonduelle, Maryse, Boute, Odile, Cormier-Daire, Valerie, De Die-Smulders, Christine, Dieux-Coeslier, Anne, Dollfus, Hélène, Elting, Mariet, Green, Andrew, Guerci, Veronica I, Hennekam, Raoul CM, Hilhorts-Hofstee, Yvonne, Holder, Muriel, Hoyng, Carel, Jones, Kristi J, Josifova, Dragana, Kaitila, Ilkka, Kjaergaard, Suzanne, Kroes, Yolande H, Lagerstedt, Kristina, Lees, Melissa, LeMerrer, Martine, Magnani, Cinzia, Marcelis, Carlo, Martorell, Loreto, Mathieu, Michèle, McEntagart, Meriel, Mendicino, Angela, Morton, Jenny, Orazio, Gabrielli, Paquis, Véronique, Reish, Orit, Simola, Kalle OJ, Smithson, Sarah F, Temple, Karen I, Van Aken, Elisabeth, Van Bever, Yolande, van den Ende, Jenneke, Van Hagen, Johanna M, Zelante, Leopoldo, Zordania, Riina, De Paepe, Anne, Leroy, Bart P, De Buyzere, Marc, Coucke, Paul J, Mortier, Geert R
منشور في 2010

Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients

بواسطة Hoornaert, Kristien P, Vereecke, Inge, Dewinter, Chantal, Rosenberg, Thomas, Beemer, Frits A, Leroy, Jules G, Bendix, Laila, Björck, Erik, Bonduelle, Maryse, Boute, Odile, Cormier-Daire, Valerie, De Die-Smulders, Christine, Dieux-Coeslier, Anne, Dollfus, Hélène, Elting, Mariet, Green, Andrew, Guerci, Veronica I, Hennekam, Raoul C M, Hilhorts-Hofstee, Yvonne, Holder, Muriel, Hoyng, Carel, Jones, Kristi J, Josifova, Dragana, Kaitila, Ilkka, Kjaergaard, Suzanne, Kroes, Yolande H, Lagerstedt, Kristina, Lees, Melissa, LeMerrer, Martine, Magnani, Cinzia, Marcelis, Carlo, Martorell, Loreto, Mathieu, Michèle, McEntagart, Meriel, Mendicino, Angela, Morton, Jenny, Orazio, Gabrielli, Paquis, Véronique, Reish, Orit, Simola, Kalle O J, Smithson, Sarah F, Temple, Karen I, Van Aken, Elisabeth, Van Bever, Yolande, van den Ende, Jenneke, Van Hagen, Johanna M, Zelante, Leopoldo, Zordania, Riina, De Paepe, Anne, Leroy, Bart P, De Buyzere, Marc, Coucke, Paul J, Mortier, Geert R
منشور في 2010