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Wyświetlanie 1-20 z 257
Tytuł:
De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features.
Autorzy:
Mullegama, Sureni V. (AUTHOR)
Kiernan, Kaitlyn A. (AUTHOR)
Torti, Erin (AUTHOR)
Pavlovsky, Ethan (AUTHOR)
Tilton, Nicholas (AUTHOR)
Sekula, Austin (AUTHOR)
Gao, Hua (AUTHOR)
Alaimo, Joseph T. (AUTHOR)
Engleman, Kendra (AUTHOR)
Rush, Eric T. (AUTHOR)
Blocker, Karli (AUTHOR)
Dipple, Katrina M. (AUTHOR)
Fettig, Veronica M. (AUTHOR)
Hare, Heather (AUTHOR)
Glass, Ian (AUTHOR)
Grange, Dorothy K. (AUTHOR)
Griffin, Michael (AUTHOR)
Phornphutkul, Chanika (AUTHOR)
Massingham, Lauren (AUTHOR)
Mehta, Lakshmi (AUTHOR)
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Źródło:
American Journal of Human Genetics. Apr2024, Vol. 111 Issue 4, p778-790. 13p.
Czasopismo naukowe
Szczegóły
Tytuł:
De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features.
Autorzy:
Pan, Xueyang (AUTHOR)
Tao, Alice M. (AUTHOR)
Lu, Shenzhao (AUTHOR)
Ma, Mengqi (AUTHOR)
Hannan, Shabab B. (AUTHOR)
Slaugh, Rachel (AUTHOR)
Drewes Williams, Sarah (AUTHOR)
O'Grady, Lauren (AUTHOR)
Kanca, Oguz (AUTHOR)
Person, Richard (AUTHOR)
Carter, Melissa T. (AUTHOR)
Platzer, Konrad (AUTHOR)
Schnabel, Franziska (AUTHOR)
Abou Jamra, Rami (AUTHOR)
Roberts, Amy E. (AUTHOR)
Newburger, Jane W. (AUTHOR)
Revah-Politi, Anya (AUTHOR)
Granadillo, Jorge L. (AUTHOR)
Stegmann, Alexander P.A. (AUTHOR)
Sinnema, Margje (AUTHOR)
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Źródło:
American Journal of Human Genetics. Apr2024, Vol. 111 Issue 4, p742-760. 19p.
Czasopismo naukowe
Szczegóły
Tytuł:
Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies.
Autorzy:
Nil, Zelha (AUTHOR)
Deshwar, Ashish R. (AUTHOR)
Huang, Yan (AUTHOR)
Barish, Scott (AUTHOR)
Zhang, Xi (AUTHOR)
Choufani, Sanaa (AUTHOR)
Le Quesne Stabej, Polona (AUTHOR)
Hayes, Ian (AUTHOR)
Yap, Patrick (AUTHOR)
Haldeman-Englert, Chad (AUTHOR)
Wilson, Carolyn (AUTHOR)
Prescott, Trine (AUTHOR)
Tveten, Kristian (AUTHOR)
Vøllo, Arve (AUTHOR)
Haynes, Devon (AUTHOR)
Wheeler, Patricia G. (AUTHOR)
Zon, Jessica (AUTHOR)
Cytrynbaum, Cheryl (AUTHOR)
Jobling, Rebekah (AUTHOR)
Blyth, Moira (AUTHOR)
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Źródło:
American Journal of Human Genetics. Nov2023, Vol. 110 Issue 11, p1919-1937. 19p.
Czasopismo naukowe
Szczegóły
Tytuł:
De novo variants in FRMD5 are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movement.
Autorzy:
Lu, Shenzhao (AUTHOR)
Ma, Mengqi (AUTHOR)
Mao, Xiao (AUTHOR)
Bacino, Carlos A. (AUTHOR)
Jankovic, Joseph (AUTHOR)
Sutton, V. Reid (AUTHOR)
Bartley, James A. (AUTHOR)
Wang, Xueying (AUTHOR)
Rosenfeld, Jill A. (AUTHOR)
Beleza-Meireles, Ana (AUTHOR)
Chauhan, Jaynee (AUTHOR)
Pan, Xueyang (AUTHOR)
Li, Megan (AUTHOR)
Liu, Pengfei (AUTHOR)
Prescott, Katrina (AUTHOR)
Amin, Sam (AUTHOR)
Davies, George (AUTHOR)
Wangler, Michael F. (AUTHOR)
Dai, Yuwei (AUTHOR)
Bellen, Hugo J. (AUTHOR)
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Źródło:
American Journal of Human Genetics. Oct2022, Vol. 109 Issue 10, p1932-1943. 12p.
Czasopismo naukowe
Szczegóły
Tytuł:
Loss-of-function variants in TIAM1 are associated with developmental delay, intellectual disability, and seizures.
Autorzy:
Lu, Shenzhao (AUTHOR)
Hernan, Rebecca (AUTHOR)
Marcogliese, Paul C. (AUTHOR)
Huang, Yan (AUTHOR)
Gertler, Tracy S. (AUTHOR)
Akcaboy, Meltem (AUTHOR)
Liu, Shiyong (AUTHOR)
Chung, Hyung-lok (AUTHOR)
Pan, Xueyang (AUTHOR)
Sun, Xiaoqin (AUTHOR)
Oguz, Melahat Melek (AUTHOR)
Oztoprak, Ulkühan (AUTHOR)
de Baaij, Jeroen H.F. (AUTHOR)
Ivanisevic, Jelena (AUTHOR)
McGinnis, Erin (AUTHOR)
Guillen Sacoto, Maria J. (AUTHOR)
Chung, Wendy K. (AUTHOR)
Bellen, Hugo J. (AUTHOR)
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Źródło:
American Journal of Human Genetics. Apr2022, Vol. 109 Issue 4, p571-586. 16p.
Czasopismo naukowe
Szczegóły
Tytuł:
Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt.
Autorzy:
Shepherdson, James L. (AUTHOR)
Hutchison, Katie (AUTHOR)
Don, Dilan Wellalage (AUTHOR)
McGillivray, George (AUTHOR)
Choi, Tae-Ik (AUTHOR)
Allan, Carolyn A. (AUTHOR)
Amor, David J. (AUTHOR)
Banka, Siddharth (AUTHOR)
Basel, Donald G. (AUTHOR)
Buch, Laura D. (AUTHOR)
Carere, Deanna Alexis (AUTHOR)
Carroll, Renée (AUTHOR)
Clayton-Smith, Jill (AUTHOR)
Crawford, Ali (AUTHOR)
Dunø, Morten (AUTHOR)
Faivre, Laurence (AUTHOR)
Gilfillan, Christopher P. (AUTHOR)
Gold, Nina B. (AUTHOR)
Gripp, Karen W. (AUTHOR)
Hobson, Emma (AUTHOR)
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Źródło:
American Journal of Human Genetics. Mar2024, Vol. 111 Issue 3, p487-508. 22p.
Czasopismo naukowe
Szczegóły
Tytuł:
COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay.
Autorzy:
Marom, Ronit (AUTHOR)
Burrage, Lindsay C. (AUTHOR)
Venditti, Rossella (AUTHOR)
Clément, Aurélie (AUTHOR)
Blanco-Sánchez, Bernardo (AUTHOR)
Jain, Mahim (AUTHOR)
Scott, Daryl A. (AUTHOR)
Rosenfeld, Jill A. (AUTHOR)
Sutton, V. Reid (AUTHOR)
Shinawi, Marwan (AUTHOR)
Mirzaa, Ghayda (AUTHOR)
DeVile, Catherine (AUTHOR)
Roberts, Rowenna (AUTHOR)
Calder, Alistair D. (AUTHOR)
Allgrove, Jeremy (AUTHOR)
Grafe, Ingo (AUTHOR)
Lanza, Denise G. (AUTHOR)
Li, Xiaohui (AUTHOR)
Joeng, Kyu Sang (AUTHOR)
Lee, Yi-Chien (AUTHOR)
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Źródło:
American Journal of Human Genetics. Sep2021, Vol. 108 Issue 9, p1710-1724. 15p.
Czasopismo naukowe
Szczegóły
Tytuł:
TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila.
Autorzy:
Goodman, Lindsey D. (AUTHOR)
Cope, Heidi (AUTHOR)
Nil, Zelha (AUTHOR)
Ravenscroft, Thomas A. (AUTHOR)
Charng, Wu-Lin (AUTHOR)
Lu, Shenzhao (AUTHOR)
Tien, An-Chi (AUTHOR)
Pfundt, Rolph (AUTHOR)
Koolen, David A. (AUTHOR)
Haaxma, Charlotte A. (AUTHOR)
Veenstra-Knol, Hermine E. (AUTHOR)
Wassink-Ruiter, Jolien S. Klein (AUTHOR)
Wevers, Marijke R. (AUTHOR)
Jones, Melissa (AUTHOR)
Walsh, Laurence E. (AUTHOR)
Klee, Victoria H. (AUTHOR)
Theunis, Miel (AUTHOR)
Legius, Eric (AUTHOR)
Steel, Dora (AUTHOR)
Barwick, Katy E.S. (AUTHOR)
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Źródło:
American Journal of Human Genetics. Sep2021, Vol. 108 Issue 9, p1669-1691. 23p.
Czasopismo naukowe
Szczegóły
Tytuł:
De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy.
Autorzy:
Usmani, Muhammad A. (AUTHOR)
Ahmed, Zubair M. (AUTHOR)
Magini, Pamela (AUTHOR)
Pienkowski, Victor Murcia (AUTHOR)
Rasmussen, Kristen J. (AUTHOR)
Hernan, Rebecca (AUTHOR)
Rasheed, Faiza (AUTHOR)
Hussain, Mureed (AUTHOR)
Shahzad, Mohsin (AUTHOR)
Lanpher, Brendan C. (AUTHOR)
Niu, Zhiyv (AUTHOR)
Lim, Foong-Yen (AUTHOR)
Pippucci, Tommaso (AUTHOR)
Ploski, Rafal (AUTHOR)
Kraus, Verena (AUTHOR)
Matuszewska, Karolina (AUTHOR)
Palombo, Flavia (AUTHOR)
Kianmahd, Jessica (AUTHOR)
Martinez-Agosto, Julian A. (AUTHOR)
Lee, Hane (AUTHOR)
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Źródło:
American Journal of Human Genetics. Jul2021, Vol. 108 Issue 7, p1330-1341. 12p.
Czasopismo naukowe
Szczegóły
Tytuł:
De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis.
Autorzy:
Weng, Patricia L. (AUTHOR)
Majmundar, Amar J. (AUTHOR)
Khan, Kamal (AUTHOR)
Lim, Tze Y. (AUTHOR)
Shril, Shirlee (AUTHOR)
Jin, Gina (AUTHOR)
Musgrove, John (AUTHOR)
Wang, Minxian (AUTHOR)
Ahram, Dina F. (AUTHOR)
Aggarwal, Vimla S. (AUTHOR)
Bier, Louise E. (AUTHOR)
Heinzen, Erin L. (AUTHOR)
Onuchic-Whitford, Ana C. (AUTHOR)
Mann, Nina (AUTHOR)
Buerger, Florian (AUTHOR)
Schneider, Ronen (AUTHOR)
Deutsch, Konstantin (AUTHOR)
Kitzler, Thomas M. (AUTHOR)
Klämbt, Verena (AUTHOR)
Kolb, Amy (AUTHOR)
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Źródło:
American Journal of Human Genetics. Feb2021, Vol. 108 Issue 2, p357-367. 11p.
Czasopismo naukowe
Szczegóły
Tytuł:
Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects.
Autorzy:
Duncan, Anna R. (AUTHOR)
Vitobello, Antonio (AUTHOR)
Collins, Stephan C. (AUTHOR)
Vancollie, Valerie E. (AUTHOR)
Lelliott, Christopher J. (AUTHOR)
Rodan, Lance (AUTHOR)
Shi, Jiahai (AUTHOR)
Seman, Ann R. (AUTHOR)
Agolini, Emanuele (AUTHOR)
Novelli, Antonio (AUTHOR)
Prontera, Paolo (AUTHOR)
Guillen Sacoto, Maria J. (AUTHOR)
Santiago-Sim, Teresa (AUTHOR)
Trimouille, Aurélien (AUTHOR)
Goizet, Cyril (AUTHOR)
Nizon, Mathilde (AUTHOR)
Bruel, Ange-Line (AUTHOR)
Philippe, Christophe (AUTHOR)
Grant, Patricia E. (AUTHOR)
Wojcik, Monica H. (AUTHOR)
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Źródło:
American Journal of Human Genetics. Dec2020, Vol. 107 Issue 6, p1170-1177. 8p.
Czasopismo naukowe
Szczegóły
Tytuł:
Bi-allelic Pathogenic Variants in HS2ST1 Cause a Syndrome Characterized by Developmental Delay and Corpus Callosum, Skeletal, and Renal Abnormalities.
Autorzy:
Schneeberger, Pauline E. (AUTHOR)
von Elsner, Leonie (AUTHOR)
Barker, Emma L. (AUTHOR)
Meinecke, Peter (AUTHOR)
Marquardt, Iris (AUTHOR)
Alawi, Malik (AUTHOR)
Steindl, Katharina (AUTHOR)
Joset, Pascal (AUTHOR)
Rauch, Anita (AUTHOR)
Zwijnenburg, Petra J.G. (AUTHOR)
Weiss, Marjan M. (AUTHOR)
Merry, Catherine L.R. (AUTHOR)
Kutsche, Kerstin (AUTHOR)
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Źródło:
American Journal of Human Genetics. Dec2020, Vol. 107 Issue 6, p1044-1061. 18p.
Czasopismo naukowe
Szczegóły
Tytuł:
De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas.
Autorzy:
Tolchin, Dara (AUTHOR)
Yeager, Jessica P. (AUTHOR)
Prasad, Priya (AUTHOR)
Dorrani, Naghmeh (AUTHOR)
Russi, Alvaro Serrano (AUTHOR)
Martinez-Agosto, Julian A. (AUTHOR)
Haseeb, Abdul (AUTHOR)
Angelozzi, Marco (AUTHOR)
Santen, G.W.E. (AUTHOR)
Ruivenkamp, Claudia (AUTHOR)
Mercimek-Andrews, Saadet (AUTHOR)
Depienne, Christel (AUTHOR)
Kuechler, Alma (AUTHOR)
Mikat, Barbara (AUTHOR)
Ludecke, Hermann-Josef (AUTHOR)
Bilan, Frederic (AUTHOR)
Le Guyader, Gwenael (AUTHOR)
Gilbert-Dussardier, Brigitte (AUTHOR)
Keren, Boris (AUTHOR)
Heide, Solveig (AUTHOR)
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Źródło:
American Journal of Human Genetics. Jun2020, Vol. 106 Issue 6, p830-845. 16p.
Czasopismo naukowe
Szczegóły
Tytuł:
AXIN1 bi-allelic variants disrupting the C-terminal DIX domain cause craniometadiaphyseal osteosclerosis with hip dysplasia.
Autorzy:
Terhal, Paulien (AUTHOR)
Venhuizen, Anton J. (AUTHOR)
Lessel, Davor (AUTHOR)
Tan, Wen-Hann (AUTHOR)
Alswaid, Abdulrahman (AUTHOR)
Grün, Regina (AUTHOR)
Alzaidan, Hamad I. (AUTHOR)
von Kroge, Simon (AUTHOR)
Ragab, Nada (AUTHOR)
Hempel, Maja (AUTHOR)
Kubisch, Christian (AUTHOR)
Novais, Eduardo (AUTHOR)
Cristobal, Alba (AUTHOR)
Tripolszki, Kornelia (AUTHOR)
Bauer, Peter (AUTHOR)
Fischer-Zirnsak, Björn (AUTHOR)
Nievelstein, Rutger A.J. (AUTHOR)
van Dijk, Atty (AUTHOR)
Nikkels, Peter (AUTHOR)
Oheim, Ralf (AUTHOR)
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Źródło:
American Journal of Human Genetics. Sep2023, Vol. 110 Issue 9, p1470-1481. 12p.
Czasopismo naukowe
Szczegóły
Tytuł:
De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation.
Autorzy:
Mao, Dongxue (AUTHOR)
Reuter, Chloe M. (AUTHOR)
Ruzhnikov, Maura R.Z. (AUTHOR)
Beck, Anita E. (AUTHOR)
Farrow, Emily G. (AUTHOR)
Emrick, Lisa T. (AUTHOR)
Rosenfeld, Jill A. (AUTHOR)
Mackenzie, Katherine M. (AUTHOR)
Robak, Laurie (AUTHOR)
Wheeler, Matthew T. (AUTHOR)
Burrage, Lindsay C. (AUTHOR)
Jain, Mahim (AUTHOR)
Liu, Pengfei (AUTHOR)
Calame, Daniel (AUTHOR)
Küry, Sébastien (AUTHOR)
Sillesen, Martin (AUTHOR)
Schmitz-Abe, Klaus (AUTHOR)
Tonduti, Davide (AUTHOR)
Spaccini, Luigina (AUTHOR)
Iascone, Maria (AUTHOR)
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Źródło:
American Journal of Human Genetics. Apr2020, Vol. 106 Issue 4, p570-583. 14p.
Czasopismo naukowe
Szczegóły
Tytuł:
Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature.
Autorzy:
Ansar, Muhammad (AUTHOR)
Chung, Hyung-lok (AUTHOR)
Al-Otaibi, Ali (AUTHOR)
Elagabani, Mohammad Nael (AUTHOR)
Ravenscroft, Thomas A. (AUTHOR)
Paracha, Sohail A. (AUTHOR)
Scholz, Ralf (AUTHOR)
Abdel Magid, Tayseer (AUTHOR)
Sarwar, Muhammad T. (AUTHOR)
Shah, Sayyed Fahim (AUTHOR)
Qaisar, Azhar Ali (AUTHOR)
Makrythanasis, Periklis (AUTHOR)
Marcogliese, Paul C. (AUTHOR)
Kamsteeg, Erik-Jan (AUTHOR)
Falconnet, Emilie (AUTHOR)
Ranza, Emmanuelle (AUTHOR)
Santoni, Federico A. (AUTHOR)
Aldhalaan, Hesham (AUTHOR)
Al-Asmari, Ali (AUTHOR)
Faqeih, Eissa Ali (AUTHOR)
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Źródło:
American Journal of Human Genetics. Nov2019, Vol. 105 Issue 5, p907-920. 14p.
Czasopismo naukowe
Szczegóły
Tytuł:
Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder.
Autorzy:
Dias, Caroline M. (AUTHOR)
Punetha, Jaya (AUTHOR)
Zheng, Céline (AUTHOR)
Mazaheri, Neda (AUTHOR)
Rad, Abolfazl (AUTHOR)
Efthymiou, Stephanie (AUTHOR)
Petersen, Andrea (AUTHOR)
Dehghani, Mohammadreza (AUTHOR)
Pehlivan, Davut (AUTHOR)
Partlow, Jennifer N. (AUTHOR)
Posey, Jennifer E. (AUTHOR)
Salpietro, Vincenzo (AUTHOR)
Gezdirici, Alper (AUTHOR)
Malamiri, Reza Azizi (AUTHOR)
Al Menabawy, Nihal M. (AUTHOR)
Selim, Laila A. (AUTHOR)
Vahidi Mehrjardi, Mohammad Yahya (AUTHOR)
Banu, Selina (AUTHOR)
Polla, Daniel L. (AUTHOR)
Yang, Edward (AUTHOR)
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Źródło:
American Journal of Human Genetics. Nov2019, Vol. 105 Issue 5, p1048-1056. 9p.
Czasopismo naukowe
Szczegóły
Tytuł:
Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment.
Autorzy:
Fiordaliso, Sarah K. (AUTHOR)
Iwata-Otsubo, Aiko (AUTHOR)
Ritter, Alyssa L. (AUTHOR)
Quesnel-Vallières, Mathieu (AUTHOR)
Fujiki, Katsunori (AUTHOR)
Nishi, Eriko (AUTHOR)
Hancarova, Miroslava (AUTHOR)
Miyake, Noriko (AUTHOR)
Morton, Jenny E.V. (AUTHOR)
Lee, Sangmoon (AUTHOR)
Hackmann, Karl (AUTHOR)
Bando, Masashige (AUTHOR)
Masuda, Koji (AUTHOR)
Nakato, Ryuichiro (AUTHOR)
Arakawa, Michiko (AUTHOR)
Bhoj, Elizabeth (AUTHOR)
Li, Dong (AUTHOR)
Hakonarson, Hakon (AUTHOR)
Takeda, Ryojun (AUTHOR)
Harr, Margaret (AUTHOR)
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Źródło:
American Journal of Human Genetics. Nov2019, Vol. 105 Issue 5, p987-995. 9p.
Czasopismo naukowe
Szczegóły
Wyświetlanie 1-20 z 257

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