Association of the missense variant p.Arg203Trp in PACS1 as a cause of intellectual disability and seizures von Stern, D., Cho, M.T., Chikarmane, R., Willaert, R., Retterer, K., Kendall, F., Deardorff, M., Hopkins, S., Bedoukian, E., Slavotinek, A., Schrier Vergano, S., Spangler, B., McDonald, M., McConkie‐Rosell, A., Burton, B.K., Kim, K.H., Oundjian, N., Kronn, D., Chandy, N., Baskin, B., Guillen Sacoto, M.J., Wentzensen, I.M., McLaughlin, H.M., McKnight, D., Chung, W.K.

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TRPV6 Variants Interfere with Maternal-Fetal Calcium Transport through the Placenta and Cause Transient Neonatal Hyperparathyroidism von Suzuki, Yoshiro, Chitayat, David, Sawada, Hirotake, Deardorff, Matthew A., McLaughlin, Heather M., Begtrup, Amber, Millar, Kathryn, Harrington, Jennifer, Chong, Karen, Roifman, Maian, Grand, Katheryn, Tominaga, Makoto, Takada, Fumio, Shuster, Shirley, Obara, Megumi, Mutoh, Hiroshi, Kushima, Reiko, Nishimura, Gen

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An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge von Brownstein, Catherine A, Beggs, Alan H, Homer, Nils, Merriman, Barry, Yu, Timothy W, Flannery, Katherine C, DeChene, Elizabeth T, Towne, Meghan C, Savage, Sarah K, Price, Emily N, Holm, Ingrid A, Luquette, Lovelace J, Lyon, Elaine, Majzoub, Joseph, Neupert, Peter, McCallie, Jr, David, Szolovits, Peter, Willard, Huntington F, Mendelsohn, Nancy J, Temme, Renee, Finkel, Richard S, Yum, Sabrina W, Medne, Livija, Sunyaev, Shamil R, Adzhubey, Ivan, Cassa, Christopher A, de Bakker, Paul I W, Duzkale, Hatice, Dworzyński, Piotr, Fairbrother, William, Francioli, Laurent, Funke, Birgit H, Giovanni, Monica A, Handsaker, Robert E, Lage, Kasper, Lebo, Matthew S, Lek, Monkol, Leshchiner, Ignaty, MacArthur, Daniel G, McLaughlin, Heather M, Murray, Michael F, Pers, Tune H, Polak, Paz P, Raychaudhuri, Soumya, Rehm, Heidi L, Soemedi, Rachel, Stitziel, Nathan O, Vestecka, Sara, Supper, Jochen, Gugenmus, Claudia, Klocke, Bernward, Hahn, Alexander, Schubach, Max, Menzel, Mortiz, Biskup, Saskia, Freisinger, Peter, Deng, Mario, Braun, Martin, Perner, Sven, Smith, Richard J H, Andorf, Janeen L, Huang, Jian, Ryckman, Kelli, Sheffield, Val C, Stone, Edwin M, Bair, Thomas, Black-Ziegelbein, E Ann, Braun, Terry A, Darbro, Benjamin, DeLuca, Adam P, Kolbe, Diana L, Scheetz, Todd E, Shearer, Aiden E, Sompallae, Rama, Wang, Kai, Bassuk, Alexander G, Edens, Erik, Mathews, Katherine, Moore, Steven A, Shchelochkov, Oleg A, Trapane, Pamela, Bossler, Aaron, Campbell, Colleen A, Heusel, Jonathan W, Kwitek, Anne, Maga, Tara, Panzer, Karin, Wassink, Thomas, Van Daele, Douglas, Azaiez, Hela, Booth, Kevin, Meyer, Nic, Segal, Michael M, Williams, Marc S, Tromp, Gerard, White, Peter, Corsmeier, Donald, Fitzgerald-Butt, Sara, Herman, Gail, Lamb-Thrush, Devon

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De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype von Shashi, V, Pena, LD, Kim, K, Burton, B, Hempel, M, Schoch, K, Walkiewicz, M, McLaughlin, HM, Cho, M, Stong, N, Hickey, SE, Shuss, CM, Undiagnosed Diseases Network, Freemark, MS, Bellet, JS, Keels, MA, Bonner, MJ, El-Dairi, M, Butler, M, Kranz, PG, Stumpel, CT, Klinkenberg, S, Oberndorff, K, Alawi, M, Santer, R, Petrovski, S, Kuismin, O, Korpi-Heikkilä, S, Pietilainen, O, Aarno, P, Kurki, MI, Hoischen, A, Need, AC, Goldstein, DB, Kortüm, F

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COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness von Heeringa, S F, Chernin, G, Chaki, M, Zhou, W, Sloan, A J, Ji, Z, Xie, L X, Salviati, L, Hurd, T W, Vega-Warner, V, Killen, P D, Raphael, Y, Ashraf, S, Ovunc, B, Schoeb, D S, McLaughlin, H M, Airik, R, Vlangos, C N, Gbadegesin, R, Hinkes, B, Saisawat, P, Trevisson, E, Doimo, M, Casarin, A, Pertegato, V, Giorgi, G, Prokisch, H, Rötig, A, Nürnberg, G, Becker, C, Wang, S, Ozaltin, F, Topaloglu, R, Bakkaloglu, A, Bakkaloglu, S A, Müller, D, Beissert, A, Mir, S, Berdeli, A, Varpizen, S, Zenker, M, Matejas, V, Santos-Ocaña, C, Navas, P, Kusakabe, T, Kispert, A, Akman, S, Soliman, N A, Krick, S, Mundel, P, Reiser, J, Nürnberg, P, Clarke, C F, Wiggins, R C, Faul, C, Hildebrandt, F

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The morphogenetic alphabet. Lessons for simple-minded genes von Larsen, E., McLaughlin, H. M. G.

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THE STRUCTURE OF FILMS OF WATER ON SALT SOLUTIONS I. SURFACE TENSION AND ADSORPTION FOR AQUEOUS SOLUTIONS OF SODIUM CHLORIDE von Harkins, William D, McLaughlin, H. M

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THE DECOMPOSITION OF POTASSIUM CHLORATE. I. SPONTANEOUS DECOMPOSITION TEMPERATURES OF MIXTURES OF POTASSIUM CHLORATE AND MANGANESE DIOXIDE von Brown, F. E, Burrows, J. Austin, McLaughlin, H. M

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A SIMPLE AUTOMATIC MERCURY PUMP von McLaughlin, H. M, Brown, F. E

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Direct ETTIN-auxin interaction controls chromatin states in gynoecium development von Kuhn, A, Ramans Harborough, S, McLaughlin, HM, Natarajan, B, Verstraeten, I, Friml, J, Kepinski, S, Østergaard, L

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PIGG variant pathogenicity assessment reveals characteristic features within 19 families von Tremblay-Laganiere, C, Maroofian, R, Nguyen, TTM, Karimiani, EG, Kirmani, S, Akbar, F, Ibrahim, S, Afroze, B, Doosti, M, Ashrafzadeh, F, Babaei, M, Efthymiou, S, Christoforou, M, Sultan, T, Ladda, RL, McLaughlin, HM, Truty, R, Mahida, S, Cohen, JS, Baranano, K, Ismail, FY, Patel, MS, Lehman, A, Edmondson, AC, Nagy, A, Walker, MA, Mercimek-Andrews, S, Maki, Y, Sachdev, R, Macintosh, R, Palmer, EE, Mancini, GMS, Barakat, TS, Steinfeld, R, Rusch, CT, Stettner, GM, Wagner, M, Wortmann, SB, Kini, U, Brady, AF, Stals, KL, Ismayilova, N, Ellard, S, Bernardo, D, Nugent, K, McLean, SD, Antonarakis, SE, Houlden, H, Kinoshita, T, Campeau, PM, Murakami, Y

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THE DECOMPOSITION OF POTASSIUM CHLORATE. III. THE EFFECT OF PRESSURE ON THE DECOMPOSITION OF POTASSIUM CHLORATE-MANGANESE DIOXIDE MIXTURES1 von McLaughlin, H. M, Brown, F. E

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Thermal Chip Evaluation of IC Packaging von McLaughlin, M., Fitzroy, N.

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Topical calcium and pH effect on gastrin release and parietal cell secretion von McLaughlin, Michael H., Peskin, Gerald W., Greenburg, A.Gerson, Saik, Richard P.

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Heat Pipe Cooled Induction Motor von Corman, J. C., Edgar, R. F., McLaughlin, M. H., Merchant, B. W., Tompkins, R. E.

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MONOMOLECULAR FILMS BETWEEN LIQUIDS: BUTYRIC ACID BETWEEN WATER AND HEXANE, AND ACETIC ACID BETWEEN WATER AND BENZENE von Harkins, William D, McLaughlin, H. M

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THE DECOMPOSITION OF POTASSIUM CHLORATE. III. THE EFFECT OF PRESSURE ON THE DECOMPOSITION OF POTASSIUM CHLORATE-MANGANESE DIOXIDE MIXTURES 1 von McLaughlin, H. M., Brown, F. E.

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Levels of cyclic GMP and cyclic AMP in regenerating forelimbs of adult newts following denervation von McLaughlin, Hooley M. G., Rathbone, Michel P., Liversage, Richard A., McLaughlin, Danielle S.

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MONTERINGSENHET MED VERMERORKYLD EFFEKTHALVLEDARANORDNING von G E WALMET, M H MCLAUGHLIN, J C CORMAN

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SE7407940 von WALMET G E, CORMAN J C, MCLAUGHLIN M H

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