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In: AACE Clinical Case Reports . (AACE Clinical Case Reports, September 2024, 10(5):174-178)
Academic Journal
Mullegama, S.V.; Torti, E.; Gao, H.; Palculict, T.B.; Telegrafi, A.; Carere, D.A.; Wentzensen, I.M.; Morrow, M.M.; Monaghan, K.G.; Juusola, J.; Pavlovsky, E.; Tilton, N.; Sekula, A.; Griffin, M.; Choudhary, S.; Kiernan, K.A.; Simonović, M.; Alaimo, J.T.; Engleman, K.; Rush, E.T.; Blocker, K.; Muller, E.; Dipple, K.M.; Glass, I.; Miller, D.E.; Merritt, J.L.; Fettig, V.M.; Hare, H.; Grange, D.K.; Slaugh, R.; Phornphutkul, C.; Massingham, L.; Mehta, L.; Thies, J.; Osmond, M.; Sawyer, S.L.; Hickey, R.E.; Wolf, B.; Zhang, Y.; Yang, J.
In: American Journal of Human Genetics . (American Journal of Human Genetics, 4 April 2024, 111(4):778-790)
Academic Journal
Kenney-Jung, D.; Korlimarla, A.; Spiridigliozzi, G.A.; Nichting, G.; Jung, S.-H.; Kishnani, P.S.; Wiggins, W.; Malinzak, M.; Provenzale, J.M.; Sun, A.; Owens, J.; Wang, R.Y.; Al Shamsi, A.; Phornphutkul, C.
In: Molecular Genetics and Metabolism . (Molecular Genetics and Metabolism, February 2024, 141(2))
Academic Journal
In: Biomedicines . (Biomedicines, October 2023, 11(10))
Academic Journal
Vocke, C.D.; Middelton, L.A.; Schmidt, L.S.; Linehan, W.M.; Fleming, L.R.; Vilboux, T.; Duncan, F.; Introne, W.J.; Smith, A.C.M.; Piskorski, A.M.; Amin, A.; de la Monte, S.; Phornphutkul, C.; Pellegrino, J.; Braddock, B.; Merino, M.J.; Cowen, E.W.
In: American Journal of Medical Genetics, Part A . (American Journal of Medical Genetics, Part A, February 2023, 191(2):490-497)
Academic Journal
In: Orthopedic Research and Reviews . (Orthopedic Research and Reviews, 2023, 15:39-45)
Academic Journal
Cali, E.; Alavi, S.; Efthymiou, S.; Salpietro, V.; Houlden, H.; Maroofian, R.; Suri, M.; Scala, M.; Striano, P.; Ferla, M.P.; Taylor, J.C.; Firoozfar, Z.; Bahreini, A.; Faqeih, E.A.; Bawazeer, S.; Bijlsma, E.K.; Wigby, K.M.; Jones, M.; Baralle, D.; Mehrjardi, M.Y.V.; Dehghani, M.; Schwab, J.; Platzer, K.; Steindl, K.; Rauch, A.; Hashem, M.; Alkuraya, F.S.; Niyazov, D.M.; Jacober, J.; Phornphutkul, C.; Littlejohn, R.O.; McLean, S.D.; Weis, D.; Zadeh, N.; Rodan, L.; Goldenberg, A.; Lecoquierre, F.; Dutra-Clarke, M.; Schweitzer, D.N.; Horvath, G.; Young, D.; Orenstein, N.; Vulto-van Silfhout, A.T.; Stegmann, A.P.A.; Herenger, Y.; Seyedhassani, S.M.; Nasab, M.E.; Ercan-Sencicek, A.G.; Gunel, M.; Movahedinia, M.; Karimiani, E.G.; Redman, M.; Kraus, A.; Laner, A.; Abdel-Salam, G.; Li, M.; Bengala, M.; Müller, A.J.; Digilio, M.C.; Titheradge, H.; Valenzuela, I.; Salih, M.; Begtrup, A.; Schnur, R.E.; Torti, E.; Haack, T.B.; Prada, C.E.
In: Genetics in Medicine . (Genetics in Medicine, January 2023, 25(1):135-142)
Academic Journal
Cordovado, A.; Jeanne, M.; Panasenkava, V.; Laumonnier, F.; Toutain, A.; Vuillaume, M.-L.; Schaettin, M.; Stoeckli, E.T.; Denomme-Pichon, A.-S.; Keren, B.; Mignot, C.; Doco-Fenzy, M.; Rodan, L.; Ramsey, K.; Narayanan, V.; Jones, J.R.; Louie, R.J.; Childers, A.; Everman, D.B.; Prijoles, E.J.; Mitchell, W.G.; Ozmore, J.R.; Juliette, K.; Torti, E.; Normand, E.A.; Granger, L.; Petersen, A.K.; Au, M.G.; Matheny, J.P.; Phornphutkul, C.; Chambers, M.-K.; Fernández-Ramos, J.-A.; López-Laso, E.; Kruer, M.C.; Bakhtiari, S.; Zollino, M.; Marangi, G.; Morleo, M.; Mei, D.; Pisano, T.; Guerrini, R.; Isidor, B.; Audebert-Bellanger, S.; Odent, S.; Bonneau, D.; Gilbert-Dussardier, B.; Redon, R.; Bezieau, S.
In: Human Molecular Genetics . (Human Molecular Genetics, 1 October 2022, 31(19):3325-3340)
Academic Journal
Mullegama, S.V.; Kiernan, K.A.; Torti, E.; Pavlovsky, E.; Tilton, N.; Sekula, A.; Gao, H.; Alaimo, J.T.; Engleman, K.; Rush, E.T.; Blocker, K.; Dipple, K.M.; Fettig, V.M.; Hare, H.; Glass, I.; Grange, D.K.; Griffin, M.; Phornphutkul, C.; Massingham, L.; Mehta, L.; Miller, D.E.; Thies, J.; Merritt, J.L.; Muller, E.; Osmond, M.; Sawyer, S.L.; Slaugh, R.; Hickey, R.E.; Wolf, B.; Choudhary, S.; Simonović, M.; Zhang, Y.; Palculict, T.B.; Telegrafi, A.; Carere, D.A.; Wentzensen, I.M.; Morrow, M.M.; Monaghan, K.G.; Juusola, J.; Yang, J.
In: American Journal of Human Genetics . (American Journal of Human Genetics, 6 June 2024, 111(6):1240)
Academic Journal
In: Annals of Internal Medicine Clinical Cases . (Annals of Internal Medicine Clinical Cases, April 2022, 1(2))
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[AR] Phornphutkul, C.
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