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Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome
Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome
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Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome

Bend, Eric G ; Aref-Eshghi, Erfan ; Everman, David B ; Rogers, R Curtis ; Cathey, Sara S ; Prijoles, Eloise J ; Lyons, Michael J ; Davis, Heather ; Clarkson, Katie ; Gripp, Karen W ; Li, Dong ; Bhoj, Elizabeth ; Zackai, Elaine ; Mark, Paul ; Hakonarson, Hakon ; Demmer, Laurie A ; Levy, Michael A ; Kerkhof, Jennifer ; Stuart, Alan ; Rodenhiser, David ; Friez, Michael J ; Stevenson, Roger E ; Schwartz, Charles E ; Sadikovic, Bekim

Clinical epigenetics, 2019-04, Vol.11 (1), p.64-17, Article 64 [Periódico revisado por pares]

Germany: BioMed Central Ltd

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2
Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A
Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A
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Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A

Bronicki, Lucas M ; Redin, Claire ; Drunat, Severine ; Piton, Amélie ; Lyons, Michael ; Passemard, Sandrine ; Baumann, Clarisse ; Faivre, Laurence ; Thevenon, Julien ; Rivière, Jean-Baptiste ; Isidor, Bertrand ; Gan, Grace ; Francannet, Christine ; Willems, Marjolaine ; Gunel, Murat ; Jones, Julie R ; Gleeson, Joseph G ; Mandel, Jean-Louis ; Stevenson, Roger E ; Friez, Michael J ; Aylsworth, Arthur S

European journal of human genetics : EJHG, 2015-04, Vol.23 (11), p.1482-1487 [Periódico revisado por pares]

England: Nature Publishing Group

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3
Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands
Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands
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Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands

Cathey, S S ; Leroy, J G ; Wood, T ; Eaves, K ; Simensen, R J ; Kudo, M ; Stevenson, R E ; Friez, M J

Journal of medical genetics, 2010-01, Vol.47 (1), p.38-48 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd

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4
Recurrent Infections, Hypotonia, and Mental Retardation Caused by Duplication of MECP2 and Adjacent Region in Xq28
Recurrent Infections, Hypotonia, and Mental Retardation Caused by Duplication of MECP2 and Adjacent Region in Xq28
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Recurrent Infections, Hypotonia, and Mental Retardation Caused by Duplication of MECP2 and Adjacent Region in Xq28

Friez, Michael J ; Jones, Julie R ; Clarkson, Katie ; Lubs, Herbert ; Abuelo, Dianne ; Bier, Jo-Ann Blaymore ; Pai, Shashidhar ; Simensen, Richard ; Williams, Charles ; Giampietro, Philip F ; Schwartz, Charles E ; Stevenson, Roger E

Pediatrics (Evanston), 2006-12, Vol.118 (6), p.e1687-e1695 [Periódico revisado por pares]

United States: Am Acad Pediatrics

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5
A mutation affecting the sodium/proton exchanger, SLC9A6, causes mental retardation with tau deposition
A mutation affecting the sodium/proton exchanger, SLC9A6, causes mental retardation with tau deposition
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A mutation affecting the sodium/proton exchanger, SLC9A6, causes mental retardation with tau deposition

Garbern, James Y. ; Neumann, Manuela ; Trojanowski, John Q. ; Lee, Virginia M.-Y. ; Feldman, Gerald ; Norris, Joy W. ; Friez, Michael J. ; Schwartz, Charles E. ; Stevenson, Roger ; Sima, Anders A. F.

Brain (London, England : 1878), 2010-05, Vol.133 (5), p.1391-1402 [Periódico revisado por pares]

England: Oxford University Press

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6
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias
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De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

Helbig, Katherine L. ; Lauerer, Robert J. ; Bahr, Jacqueline C. ; Souza, Ivana A. ; Uysal, Betül ; Gandini, Maria A. ; Huang, Sun ; Keren, Boris ; Mignot, Cyril ; Billette de Villemeur, Thierry ; Nava, Caroline ; Valence, Stéphanie ; Buratti, Julien ; Fagerberg, Christina R. ; Soerensen, Kristina P. ; Kamsteeg, Erik-Jan ; Koolen, David A. ; Gunning, Boudewijn ; Schelhaas, H. Jurgen ; Fox, Jordana ; Bakhtiari, Somayeh ; Jarrar, Randa ; Lindstrom, Kristin ; Jin, Sheng Chih ; Zeng, Xue ; Bilguvar, Kaya ; Papavasileiou, Antigone ; Xing, Qinghe ; Zhu, Changlian ; Boysen, Katja ; Vairo, Filippo ; Klee, Eric W. ; Tillema, Jan-Mendelt ; Payne, Eric T. ; Cousin, Margot A. ; Kruisselbrink, Teresa M. ; Wick, Myra J. ; Baker, Joshua ; Smith, Nicholas ; Angrist, Misha ; Ashley, Patricia ; Bidegain, Margarita ; Chambers, Eileen ; Cope, Heidi ; Cotten, C. Michael ; Curington, Theresa ; Davis, Erica E. ; Fisher, Kimberley ; French, Amanda ; Gallentine, William ; Hill, Kevin ; Kansagra, Sujay ; Katsanis, Sara ; Kurtzberg, Joanne ; Marcus, Jeffrey ; McDonald, Marie ; Mikati, Mohammed ; Miller, Stephen ; Murtha, Amy ; Perilla, Yezmin ; Pizoli, Carolyn ; Ross, Sherry ; Sadeghpour, Azita ; Smith, Edward ; Wiener, John ; Corbett, Mark A. ; Goldmann, Eva ; Kichula, Elizabeth ; Segal, Eric ; Jackson, Kelly E. ; Asamoah, Alexander ; McCarrier, Julie ; Botto, Lorenzo D. ; Tvrdik, Tatiana ; Cascino, Gregory D. ; Klingerman, Sherry ; Neumann, Catherine ; Nolan, Melinda A. ; Snell, Russell G. ; Lehnert, Klaus ; Sadleir, Lynette G. ; Kvarnung, Malin ; Guerrini, Renzo ; Friez, Michael J. ; Lyons, Michael J. ; Leonhard, Jennifer ; Kringlen, Gabriel ; El Achkar, Christelle M. ; Smith, Lacey A. ; Carss, Keren J. ; Rankin, Julia ; Zeman, Adam ; Blyth, Moira ; Kerr, Bronwyn ; Ruiz, Karla ; Urquhart, Jill ; Banka, Siddharth ; Scheffer, Ingrid E. ; Zamponi, Gerald W. ; Mefford, Heather C.

American journal of human genetics, 2018-11, Vol.103 (5), p.666-678 [Periódico revisado por pares]

United States: Elsevier Inc

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7
Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome
Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome
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Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome

Hijazi, Hadia ; Coelho, Fernanda S. ; Gonzaga‐Jauregui, Claudia ; Bernardini, Laura ; Mar, Soe S. ; Manning, Melanie A. ; Hanson‐Kahn, Andrea ; Naidu, SakkuBai ; Srivastava, Siddharth ; Lee, Jennifer A. ; Jones, Julie R. ; Friez, Michael J. ; Alberico, Thomas ; Torres, Barbara ; Fang, Ping ; Cheung, Sau Wai ; Song, Xiaofei ; Davis‐Williams, Angelique ; Jornlin, Carly ; Wight, Patricia A. ; Patyal, Pankaj ; Taube, Jennifer ; Poretti, Andrea ; Inoue, Ken ; Zhang, Feng ; Pehlivan, Davut ; Carvalho, Claudia M. B. ; Hobson, Grace M. ; Lupski, James R.

Human mutation, 2020-01, Vol.41 (1), p.150-168 [Periódico revisado por pares]

United States: Hindawi Limited

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8
Clark‐Baraitser syndrome is associated with a nonsense alteration in the autosomal gene TRIP12
Clark‐Baraitser syndrome is associated with a nonsense alteration in the autosomal gene TRIP12
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Clark‐Baraitser syndrome is associated with a nonsense alteration in the autosomal gene TRIP12

Louie, Raymond J. ; Friez, Michael J. ; Skinner, Cindy ; Baraitser, Michael ; Clark, Robin D. ; Schwartz, Charles E. ; Stevenson, Roger E.

American journal of medical genetics. Part A, 2020-03, Vol.182 (3), p.595-596 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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9
Normalized Clinical Severity Scores Reveal a Correlation between X Chromosome Inactivation and Disease Severity in Rett Syndrome
Normalized Clinical Severity Scores Reveal a Correlation between X Chromosome Inactivation and Disease Severity in Rett Syndrome
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Normalized Clinical Severity Scores Reveal a Correlation between X Chromosome Inactivation and Disease Severity in Rett Syndrome

Merritt, Jonathan K ; Fang, Xiaolan ; Caylor, Raymond C ; Skinner, Steven A ; Friez, Michael J ; Percy, Alan K ; Neul, Jeffrey L

Genes, 2024-05, Vol.15 (5), p.594 [Periódico revisado por pares]

Switzerland: MDPI AG

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10
Does the clinical phenotype of mucolipidosis-IIIγ differ from its αβ counterpart?: supporting facts in a cohort of 18 patients
Does the clinical phenotype of mucolipidosis-IIIγ differ from its αβ counterpart?: supporting facts in a cohort of 18 patients
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Does the clinical phenotype of mucolipidosis-IIIγ differ from its αβ counterpart?: supporting facts in a cohort of 18 patients

Nampoothiri, Sheela ; Elcioglu, Nursel H ; Koca, Suleyman S ; Yesodharan, Dhanya ; Kk, Chandrababu ; Krishnan, 5th, Vinod ; Bhat, Meenakshi ; Mohandas Nair K ; Radhakrishnan, Natasha ; Kappanayil, Mahesh ; Sheth, Jayesh J ; Alves, Sandra ; Coutinho, Francisca ; Friez, Michael J ; Pauli, Richard M ; Unger, Sheila ; Superti-Furga, Andrea ; Leroy, Jules G ; Cathey, Sara S

Clinical dysmorphology, 2019-01, Vol.28 (1), p.7-16 [Periódico revisado por pares]

England

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