Resultados da busca - Stegmann, Alexander P A

Genetic analysis of spinal dysraphism with a hamartomatous growth (appendix) of the spinal cord: a case series por Bartels, Ronald H. M. A., Grotenhuis, J. Andre, Stegmann, Alexander P. A., Brunner, Han

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Acute encephalopathy after head trauma in a patient with a RHOBTB2 mutation por Knijnenburg, Annemarie C.S., Nicolai, Joost, Bok, Levinus A., Bay, Akin, Stegmann, Alexander P.A., Sinnema, Margje, Vreeburg, Maaike

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Inhibition of T Cell and Promotion of Natural Killer Cell Development by the Dominant Negative Helix Loop Helix Factor Id3 por Heemskerk, Mirjam H.M., Blom, Bianca, Nolan, Garry, Stegmann, Alexander P.A., Bakker, Arjen Q., Weijer, Kees, Res, Pieter C.M., Spits, Hergen

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Loss-of-function zinc finger mutation in the EGLN1 gene associated with erythrocytosis por Sinnema, Margje, Song, Daisheng, Guan, Wei, Janssen, Johanna W. H., van Wijk, Richard, Navalsky, Bradleigh E., Peng, Kai, Donker, Albertine E., Stegmann, Alexander P. A., Lee, Frank S.

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Mutations in RPSA and NKX2‐3 link development of the spleen and intestinal vasculature por Kerkhofs, Chantal, Stevens, Servi J. C., Faust, Saul N., Rae, William, Williams, Anthony P., Wurm, Peter, Østern, Rune, Fockens, Paul, Würfel, Christiane, Laass, Martin, Kokke, Freddy, Stegmann, Alexander P. A., Brunner, Han G.

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The adult phenotype of Schaaf-Yang syndrome por Marbach, Felix, Elgizouli, Magdeldin, Rech, Megan, Beygo, Jasmin, Erger, Florian, Velmans, Clara, Stumpel, Constance T. R. M., Stegmann, Alexander P. A., Beck-Wödl, Stefanie, Gillessen-Kaesbach, Gabriele, Horsthemke, Bernhard, Schaaf, Christian P., Kuechler, Alma

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SAMS, a Syndrome of Short Stature, Auditory-Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities Is a Unique Neurocristopathy Caused by Mutations in Goosecoid por Parry, David A., Logan, Clare V., Stegmann, Alexander P.A., Abdelhamed, Zakia A., Calder, Alistair, Khan, Shabana, Bonthron, David T., Clowes, Virginia, Sheridan, Eamonn, Ghali, Neeti, Chudley, Albert E., Dobbie, Angus, Stumpel, Constance T.R.M., Johnson, Colin A.

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Diagnostic exome-based preconception carrier testing in consanguineous couples: results from the first 100 couples in clinical practice por Sallevelt, Suzanne C. E. H., Stegmann, Alexander P. A., de Koning, Bart, Velter, Crool, Steyls, Anja, van Esch, Melanie, Lakeman, Phillis, Yntema, Helger, Esteki, Masoud Zamani, de Die-Smulders, Christine E. M., Gilissen, Christian, van den Wijngaard, Arthur, Brunner, Han G., Paulussen, Aimée D. C.

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Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder por Koemans, Tom S., Kleefstra, Tjitske, Chubak, Melissa C., Stone, Max H., Reijnders, Margot R. F., de Munnik, Sonja, Willemsen, Marjolein H., Fenckova, Michaela, Stumpel, Connie T. R. M., Bok, Levinus A., Sifuentes Saenz, Margarita, Byerly, Kyna A., Baughn, Linda B., Stegmann, Alexander P. A., Pfundt, Rolph, Zhou, Huiqing, van Bokhoven, Hans, Schenck, Annette, Kramer, Jamie M.

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De novo variants in MPP5 cause global developmental delay and behavioral changes por Sterling, Noelle, Duncan, Anna R, Park, Raehee, Koolen, David A, Shi, Jiahai, Cho, Seo-Hee, Benke, Paul J, Grant, Patricia E, Genetti, Casie A, VanNoy, Grace E, Juusola, Jane, McWalter, Kirsty, Parboosingh, Jillian S, Lamont, Ryan E, Bernier, Francois P, Smith, Christopher, Harris, David J, Stegmann, Alexander P A, Innes, A Micheil, Kim, Seonhee, Agrawal, Pankaj B

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Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders por Pfundt, Rolph, del Rosario, Marisol, Vissers, Lisenka E.L.M., Kwint, Michael P., Janssen, Irene M., de Leeuw, Nicole, Yntema, Helger G., Nelen, Marcel R., Lugtenberg, Dorien, Kamsteeg, Erik-Jan, Wieskamp, Nienke, Stegmann, Alexander P.A., Stevens, Servi J.C., Rodenburg, Richard J.T., Simons, Annet, Mensenkamp, Arjen R., Rinne, Tuula, Gilissen, Christian, Scheffer, Hans, Veltman, Joris A., Hehir-Kwa, Jayne Y.

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Functional analysis of a hypomorphic allele shows that MMP14 catalytic activity is the prime determinant of the Winchester syndrome phenotype por de Vos, Ivo J H M, Tao, Evelyn Yaqiong, Ong, Sheena Li Ming, Goggi, Julian L, Scerri, Thomas, Wilson, Gabrielle R, Low, Chernis Guai Mun, Wong, Arnette Shi Wei, Grussu, Dominic, Stegmann, Alexander P A, van Geel, Michel, Janssen, Renske, Amor, David J, Bahlo, Melanie, Dunn, Norris R, Carney, Thomas J, Lockhart, Paul J, Coull, Barry J, van Steensel, Maurice A M

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Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability por Marom, Ronit, Jain, Mahim, Burrage, Lindsay C., Song, I-Wen, Graham, Brett H., Brown, Chester W., Stevens, Servi J.C., Stegmann, Alexander P.A., Gunter, Andrew T., Kaplan, Julie D., Gavrilova, Ralitza H., Shinawi, Marwan, Rosenfeld, Jill A., Bae, Yangjin, Tran, Alyssa A., Chen, Yuqing, Lu, James T., Gibbs, Richard A., Eng, Christine, Yang, Yaping, Rousseau, Justine, de Vries, Bert B.A., Campeau, Philippe M., Lee, Brendan

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Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila por Straub, Jonas, Konrad, Enrico D.H., Grüner, Johanna, Toutain, Annick, Bok, Levinus A., Cho, Megan T., Crawford, Heather P., Dubbs, Holly, Douglas, Ganka, Jobling, Rebekah, Johnson, Diana, Krock, Bryan, Mikati, Mohamad A., Nesbitt, Addie, Nicolai, Joost, Phillips, Meredith, Poduri, Annapurna, Ortiz-Gonzalez, Xilma R., Powis, Zöe, Santani, Avni, Smith, Lacey, Stegmann, Alexander P.A., Stumpel, Constance, Vreeburg, Maaike, Fliedner, Anna, Gregor, Anne, Sticht, Heinrich, Zweier, Christiane

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De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental de... por Slavotinek, Anne, Risolino, Maurizio, Losa, Marta, Cho, Megan T, Monaghan, Kristin G, Schneidman-Duhovny, Dina, Parisotto, Sarah, Herkert, Johanna C, Stegmann, Alexander P A, Miller, Kathryn, Shur, Natasha, Chui, Jacqueline, Muller, Eric, DeBrosse, Suzanne, Szot, Justin O, Chapman, Gavin, Pachter, Nicholas S, Winlaw, David S, Mendelsohn, Bryce A, Dalton, Joline, Sarafoglou, Kyriakie, Karachunski, Peter I, Lewis, Jane M, Pedro, Helio, Dunwoodie, Sally L, Selleri, Licia, Shieh, Joseph

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Human KCNQ5 de novo mutations underlie epilepsy and intellectual disability por Wei, Aguan D., Wakenight, Paul, Zwingman, Theresa A., Bard, Angela M., Sahai, Nikhil, Willemsen, Marjolein H., Schelhaas, Helenius J., Stegmann, Alexander P. A., Verhoeven, Judith S., de Man, Stella A., Wessels, Marja W., Kleefstra, Tjitske, Shinde, Deepali N., Helbig, Katherine L., Basinger, Alice, Wagner, Victoria F., Rodriguez-Buritica, David, Bryant, Emily, Millichap, John J., Millen, Kathleen J., Dobyns, William B., Ramirez, Jan-Marino, Kalume, Franck K.

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De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies por Platzer, Konrad, Sticht, Heinrich, Edwards, Stacey L., Allen, William, Angione, Kaitlin M., Bonati, Maria T., Brasington, Campbell, Cho, Megan T., Demmer, Laurie A., Falik-Zaccai, Tzipora, Gamble, Candace N., Hellenbroich, Yorck, Iascone, Maria, Kok, Fernando, Mahida, Sonal, Mandel, Hanna, Marquardt, Thorsten, McWalter, Kirsty, Panis, Bianca, Pepler, Alexander, Pinz, Hailey, Ramos, Luiza, Shinde, Deepali N., Smith-Hicks, Constance, Stegmann, Alexander P.A., Stöbe, Petra, Stumpel, Constance T.R.M., Wilson, Carolyn, Lemke, Johannes R., Di Donato, Nataliya, Miller, Kenneth G., Jamra, Rami

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De novo variants in ATP2B1 lead to neurodevelopmental delay por Rahimi, Meer Jacob, Urban, Nicole, Wegler, Meret, Sticht, Heinrich, Schaefer, Michael, Popp, Bernt, Gaunitz, Frank, Morleo, Manuela, Nigro, Vincenzo, Maitz, Silvia, Mancini, Grazia M.S., Ruivenkamp, Claudia, Suk, Eun-Kyung, Bartolomaeus, Tobias, Merkenschlager, Andreas, Koboldt, Daniel, Bartholomew, Dennis, Stegmann, Alexander P.A., Sinnema, Margje, Duynisveld, Irma, Salvarinova, Ramona, Race, Simone, de Vries, Bert B.A., Trimouille, Aurélien, Naudion, Sophie, Marom, Daphna, Hamiel, Uri, Henig, Noa, Demurger, Florence, Rahner, Nils, Bartels, Enrika, Hamm, J. Austin, Putnam, Abbey M., Person, Richard, Abou Jamra, Rami, Oppermann, Henry

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The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes por Paulussen, Aimée DC, Schrander-Stumpel, Constance T, Tserpelis, Demis C J, Spee, Matteus K M, Stegmann, Alexander P A, Mancini, Grazia M, Brooks, Alice S, Collée, Margriet, Maat-Kievit, Anneke, Simon, Marleen E H, van Bever, Yolande, Stolte-Dijkstra, Irene, Kerstjens-Frederikse, Wilhelmina S, Herkert, Johanna C, van Essen, Anthonie J, Lichtenbelt, Klaske D, van Haeringen, Arie, Kwee, Mei L, Lachmeijer, Augusta M A, Tan-Sindhunata, Gita M B, van Maarle, Merel C, Arens, Yvonne H J M, Smeets, Eric E J G L, de Die-Smulders, Christine E, Engelen, John J M, Smeets, Hubertus J, Herbergs, Jos

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Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation por Yan, Kezhi, Rousseau, Justine, Littlejohn, Rebecca Okashah, Kiss, Courtney, Lehman, Anna, Rosenfeld, Jill A., Stumpel, Constance T.R., Stegmann, Alexander P.A., Robak, Laurie, Scaglia, Fernando, Nguyen, Thi Tuyet Mai, Fu, He, Ajeawung, Norbert F., Camurri, Maria Vittoria, Li, Lin, Gardham, Alice, Panis, Bianca, Almannai, Mohammed, Sacoto, Maria J. Guillen, Baskin, Berivan, Ruivenkamp, Claudia, Xia, Fan, Bi, Weimin, Cho, Megan T., Potjer, Thomas P., Santen, Gijs W.E., Parker, Michael J., Canham, Natalie, McKinnon, Margaret, Potocki, Lorraine, MacKenzie, Jennifer J., Roeder, Elizabeth R., Campeau, Philippe M., Yang, Xiang-Jiao

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