Αποτελέσματα αναζήτησης - Grand, Katheryn

Isolated vocal cord paralysis in two siblings with compound heterozygous variants in MUSK: Expanding the phenotypic spectrum από Murali, Chaya, Li, Dong, Grand, Katheryn, Hakonarson, Hakon, Bhoj, Elizabeth

Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου

Tumor Screening in Beckwith-Wiedemann Syndrome: Parental Perspectives από Duffy, Kelly A., Grand, Katheryn L., Zelley, Kristin, Kalish, Jennifer M.

Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου

Congenital hyperinsulinism in a newborn presenting with poor feeding από Mazloom, Kiran, Sanchez-Lara, Pedro A, Langston, Seth, Grand, Katheryn, Schweiger, Bahareh

Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου

Genetic skin disorders: The value of a multidisciplinary clinic από Parker, James Clayton, Rangu, Sneha, Grand, Katheryn Lynn, Bhoj, Elizabeth Joyce, Castelo-Soccio, Leslie, Sheppard, Sarah E.

Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου

Whole genome sequencing identifies a cryptic SOX9 regulatory element duplication underlying a case of 46,XX ovotesticular difference of sexual development από Qian, Zhiyu, Grand, Katheryn, Freedman, Andrew, Nieto, Maria C., Behlmann, Andrea, Schweiger, Bahareh M., Sanchez‐Lara, Pedro A.

Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου

Beckwith-Wiedemann Syndrome in Diverse Populations από Duffy, Kelly A., Sajorda, Brian J., Yu, Alice C., Hathaway, Evan R., Grand, Katheryn L., Deardorff, Matthew A., Kalish, Jennifer M.

Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου

Association of hypocalcemia with congenital heart disease in 22q11.2 deletion syndrome από Rayannavar, Arpana, Katz, Lorraine E. Levitt, Crowley, Terrence Blaine, Lessig, Megan, Grand, Katheryn, Goldmuntz, Elizabeth, Zackai, Elaine H., McDonald-McGinn, Donna M.

Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου

The Impact of Hypocalcemia on Full Scale IQ in Patients with 22q11.2 Deletion Syndrome από Grand, Katheryn, Levitt Katz, Lorraine E., Crowley, T. Blaine, Moss, Edward, Lessig, Megan, Bamba, Vaneeta, Lord, Katherine, Zackai, Elaine H., Emanuel, Beverly S., Valverde, Kathleen, McDonald-McGinn, Donna M.

Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου

Further delineation of the phenotypic spectrum of nevus comedonicus syndrome to include congenital pulmonary airway malformation of the lung and aneurysm από Sheppard, Sarah E., Smith, Anna, Grand, Katheryn, Pogoriler, Jennifer, Rubin, Adam I., Schindewolf, Erica, Fitzgerald, Mark P., Moldenhauer, Julie, Laje, Pablo, Peranteau, William, Bhoj, Elizabeth, McMahon, Patrick, Castelo-Soccio, Leslie

Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου

Identification of an Identical de Novo SCAMP5 Missense Variant in Four Unrelated Patients With Seizures and Severe Neurodevelopmental Delay από Jiao, Xianru, Morleo, Manuela, Nigro, Vincenzo, Torella, Annalaura, D’Arrigo, Stefano, Ciaccio, Claudia, Pantaleoni, Chiara, Gong, Pan, Grand, Katheryn, Sanchez-Lara, Pedro A., Krier, Joel, Fieg, Elizabeth, Stergachis, Andrew, Wang, Xiaodong, Yang, Zhixian

Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου

Growth Hormone Deficiency in MCAP: An Association with Activating Mutations in PIK3CA από Davis, Shanlee, Ware, Meredith A., Zeiger, Jordan, Deardorff, Matthew A., Grand, Katheryn, Grimberg, Adda, Hsu, Stephanie, Kelsey, Megan, Majidi, Shideh, Mathew, Revi P., Napier, Melanie, Nokoff, Natalie, Prasad, Chitra, Riggs, Andrew C., McKinnon, Margaret L., Mirzaa, Ghayda

Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου

TRPV6 Variants Interfere with Maternal-Fetal Calcium Transport through the Placenta and Cause Transient Neonatal Hyperparathyroidism από 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

Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου

Hyperinsulinemic Hypoglycemia in Seven Patients with de novo NSD1 Mutations από Grand, Katheryn, Gonzalez-Gandolfi, Christina, Ackermann, Amanda M., Aljeaid, Deema, Bedoukian, Emma, Bird, Lynne M., De Leon, Diva D., Diaz, Jullianne, Hopkin, Robert J., Kadakia, Sejal P., Keena, Beth, Klein, Karen O., Krantz, Ian, Leon, Eyby, Lord, Katherine, McDougall, Carey, Medne, Livija, Skraban, Cara M., Stanley, Charles A., Tarpinian, Jennifer, Zackai, Elaine, Deardorff, Matthew A., Kalish, Jennifer M.

Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου

Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes από Bhoj, Elizabeth J., Haye, Damien, Toutain, Annick, Bonneau, Dominique, Nielsen, Irene Kibæk, Lund, Ida Bay, Bogaard, Pauline, Leenskjold, Stine, Karaer, Kadri, Wild, Katherine T, Grand, Katheryn L, Astiazaran, Mirena C., Gonzalez-Nieto, Luis A., Carvalho, Ana, Lehalle, Daphné, Amudhavalli, Shivarajan M, Repnikova, Elena, Saunders, Carol, Thiffault, Isabelle, Saadi, Irfan, Li, Dong, Hakonarson, Hakon, Vial, Yoann, Zackai, Elaine, Callier, Patrick, Drunat, Séverine, Verloes, Alain

Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου

Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome από Li, Dong, March, Michael E., Fortugno, Paola, Cox, Liza L., Matsuoka, Leticia S., Monetta, Rosanna, Seiler, Christoph, Pyle, Louise C., Bedoukian, Emma C., Sánchez-Soler, María José, Caluseriu, Oana, Grand, Katheryn, Tam, Allison, Aycinena, Alicia R. P., Camerota, Letizia, Guo, Yiran, Sleiman, Patrick, Callewaert, Bert, Kumps, Candy, Dheedene, Annelies, Buckley, Michael, Kirk, Edwin P., Turner, Anne, Kamien, Benjamin, Patel, Chirag, Wilson, Meredith, Roscioli, Tony, Christodoulou, John, Cox, Timothy C., Zackai, Elaine H., Brancati, Francesco, Hakonarson, Hakon, Bhoj, Elizabeth J.

Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου

Pathogenic variants in SMARCA5, a chromatin remodeler, cause a range of syndromic neurodevelopmental features από Li, Dong, Wang, Qin, Gong, Naihua N., Kurolap, Alina, Feldman, Hagit Baris, Boy, Nikolas, Brugger, Melanie, Grand, Katheryn, McWalter, Kirsty, Guillen Sacoto, Maria J., Wakeling, Emma, Hurst, Jane, March, Michael E., Bhoj, Elizabeth J., Nowaczyk, Małgorzata J. M., Gonzaga-Jauregui, Claudia, Mathew, Mariam, Dava-Wala, Ashita, Siemon, Amy, Bartholomew, Dennis, Huang, Yue, Lee, Hane, Martinez-Agosto, Julian A., Schwaibold, Eva M. C., Brunet, Theresa, Choukair, Daniela, Pais, Lynn S., White, Susan M., Christodoulou, John, Brown, Dana, Lindstrom, Kristin, Grebe, Theresa, Tiosano, Dov, Kayser, Matthew S., Tan, Tiong Yang, Deardorff, Matthew A., Song, Yuanquan, Hakonarson, Hakon

Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου

WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features από Skraban, Cara M., Wells, Constance F., Markose, Preetha, Cho, Megan T., Nesbitt, Addie I., Au, P.Y. Billie, Begtrup, Amber, Bernat, John A., Bird, Lynne M., Cao, Kajia, de Brouwer, Arjan P.M., Denenberg, Elizabeth H., Douglas, Ganka, Gibson, Kristin M., Grand, Katheryn, Goldenberg, Alice, Innes, A. Micheil, Juusola, Jane, Kempers, Marlies, Kinning, Esther, Markie, David M., Owens, Martina M., Payne, Katelyn, Person, Richard, Pfundt, Rolph, Stocco, Amber, Turner, Claire L.S., Verbeek, Nienke E., Walsh, Laurence E., Warner, Taylor C., Wheeler, Patricia G., Wieczorek, Dagmar, Wilkens, Alisha B., Zonneveld-Huijssoon, Evelien, Kleefstra, Tjitske, Robertson, Stephen P., Santani, Avni, van Gassen, Koen L.I., Deardorff, Matthew A.

Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου

Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms από Yabumoto, Megan, Kianmahd, Jessica, Singh, Meghna, Palafox, Maria F., Wei, Angela, Elliott, Kathryn, Goodloe, Dana H., Dean, S. Joy, Gooch, Catherine, Murray, Brianna K., Swartz, Erin, Schrier Vergano, Samantha A., Towne, Meghan C., Nugent, Kimberly, Roeder, Elizabeth R., Kresge, Christina, Pletcher, Beth A., Grand, Katheryn, Graham, John M., Gates, Ryan, Gomez‐Ospina, Natalia, Ramanathan, Subhadra, Clark, Robin Dawn, Glaser, Kimberly, Benke, Paul J., Cohen, Julie S., Fatemi, Ali, Mu, Weiyi, Baranano, Kristin W., Madden, Jill A., Gubbels, Cynthia S., Yu, Timothy W., Agrawal, Pankaj B., Chambers, Mary‐Kathryn, Phornphutkul, Chanika, Pugh, John A., Tauber, Kate A., Azova, Svetlana, Smith, Jessica R., O’Donnell‐Luria, Anne, Medsker, Hannah, Srivastava, Siddharth, Krakow, Deborah, Schweitzer, Daniela N., Arboleda, Valerie A.

Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου

GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder από Shieh, Christine, Jones, Natasha, Vanle, Brigitte, Au, Margaret, Huang, Alden Y., Silva, Ana P.G., Lee, Hane, Douine, Emilie D., Otero, Maria G., Choi, Andrew, Grand, Katheryn, Taff, Ingrid P., Delgado, Mauricio R., Hajianpour, MJ, Seeley, Andrea, Rohena, Luis, Vernon, Hilary, Gripp, Karen W., Vergano, Samantha A., Mahida, Sonal, Naidu, Sakkubai, Sousa, Ana Berta, Wain, Karen E., Challman, Thomas D., Beek, Geoffrey, Basel, Donald, Ranells, Judith, Smith, Rosemarie, Yusupov, Roman, Freckmann, Mary-Louise, Ohden, Lisa, Davis-Keppen, Laura, Chitayat, David, Dowling, James J., Finkel, Richard, Dauber, Andrew, Spillmann, Rebecca, Pena, Loren D.M., Metcalfe, Kay, Splitt, Miranda, Lachlan, Katherine, McKee, Shane A., Hurst, Jane, Fitzpatrick, David R., Morton, Jenny E.V., Cox, Helen, Venkateswaran, Sunita, Young, Juan I., Marsh, Eric D., Nelson, Stanley F., Martinez, Julian A., Graham, John M., Kini, Usha, Mackay, Joel P., Pierson, Tyler Mark

Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου

Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia από Wiessner, Manuela, Maroofian, Reza, Ni, Meng-Yuan, Pedroni, Andrea, Müller, Juliane S, Stucka, Rolf, Beetz, Christian, Efthymiou, Stephanie, Santorelli, Filippo M, Alfares, Ahmed A, Zhu, Changlian, Uhrova Meszarosova, Anna, Alehabib, Elham, Bakhtiari, Somayeh, Janecke, Andreas R, Otero, Maria Gabriela, Chen, Jin Yun Helen, Peterson, James T, Strom, Tim M, De Jonghe, Peter, Deconinck, Tine, De Ridder, Willem, De Winter, Jonathan, Pasquariello, Rossella, Ricca, Ivana, Alfadhel, Majid, van de Warrenburg, Bart P, Portier, Ruben, Bergmann, Carsten, Ghasemi Firouzabadi, Saghar, Jin, Sheng Chih, Bilguvar, Kaya, Hamed, Sherifa, Abdelhameed, Mohammed, Haridy, Nourelhoda A, Maqbool, Shazia, Rahman, Fatima, Anwar, Najwa, Carmichael, Jenny, Pagnamenta, Alistair, Wood, Nick W, Tran Mau-Them, Frederic, Haack, Tobias, Di Rocco, Maja, Ceccherini, Isabella, Iacomino, Michele, Zara, Federico, Salpietro, Vincenzo, Scala, Marcello, Rusmini, Marta, Xu, Yiran, Wang, Yinghong, Suzuki, Yasuhiro, Koh, Kishin, Nan, Haitian, Ishiura, Hiroyuki, Tsuji, Shoji, Lambert, Laëtitia, Schmitt, Emmanuelle, Lacaze, Elodie, Küpper, Hanna, Dredge, David, Skraban, Cara, Goldstein, Amy, Willis, Mary J H, Grand, Katheryn, Graham, John M, Lewis, Richard A, Millan, Francisca, Duman, Özgür, Dündar, Nihal, Uyanik, Gökhan, Schöls, Ludger, Nürnberg, Peter, Nürnberg, Gudrun, Catala Bordes, Andrea, Seeman, Pavel, Kuchar, Martin, Darvish, Hossein, Rebelo, Adriana, Bouçanova, Filipa, Medard, Jean-Jacques, Chrast, Roman, Auer-Grumbach, Michaela, Alkuraya, Fowzan S, Shamseldin, Hanan, Al Tala, Saeed, Rezazadeh Varaghchi, Jamileh, Najafi, Maryam, Deschner, Selina, Gläser, Dieter, Hüttel, Wolfgang, Kruer, Michael C, Kamsteeg, Erik-Jan, Takiyama, Yoshihisa, Züchner, Stephan, Baets, Jonathan, Synofzik, Matthis, Schüle, Rebecca, Horvath, Rita, Houlden, Henry, Bartesaghi, Luca, Lee, Hwei-Jen, Ampatzis, Konstantinos, Pierson, Tyler Mark, Senderek, Jan

Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου