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Protein Kinase Cδ Deficiency Causes Mendelian Systemic Lupus Erythematosus With B Cell‐Defective Apoptosis and Hyperproliferation
Protein Kinase Cδ Deficiency Causes Mendelian Systemic Lupus Erythematosus With B Cell‐Defective Apoptosis and Hyperproliferation
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Protein Kinase Cδ Deficiency Causes Mendelian Systemic Lupus Erythematosus With B Cell‐Defective Apoptosis and Hyperproliferation

Belot, Alexandre ; Kasher, Paul R. ; Trotter, Eleanor W. ; Foray, Anne‐Perrine ; Debaud, Anne‐Laure ; Rice, Gillian I. ; Szynkiewicz, Marcin ; Zabot, Marie‐Therese ; Rouvet, Isabelle ; Bhaskar, Sanjeev S. ; Daly, Sarah B. ; Dickerson, Jonathan E. ; Mayer, Josephine ; O'Sullivan, James ; Juillard, Laurent ; Urquhart, Jill E. ; Fawdar, Shameem ; Marusiak, Anna A. ; Stephenson, Natalie ; Waszkowycz, Bohdan ; Beresford, Michael W. ; Biesecker, Leslie G. ; Black, Graeme C. M. ; René, Céline ; Eliaou, Jean‐François ; Fabien, Nicole ; Ranchin, Bruno ; Cochat, Pierre ; Gaffney, Patrick M. ; Rozenberg, Flore ; Lebon, Pierre ; Malcus, Christophe ; Crow, Yanick J. ; Brognard, John ; Bonnefoy, Nathalie

Arthritis & rheumatology (Hoboken, N.J.), 2013-08, Vol.65 (8), p.2161-2171 [Periódico revisado por pares]

United States: Wiley

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12
The Contribution of Whole Gene Deletions and Large Rearrangements to the Mutation Spectrum in Inherited Tumor Predisposing Syndromes
The Contribution of Whole Gene Deletions and Large Rearrangements to the Mutation Spectrum in Inherited Tumor Predisposing Syndromes
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The Contribution of Whole Gene Deletions and Large Rearrangements to the Mutation Spectrum in Inherited Tumor Predisposing Syndromes

Smith, Miriam J. ; Urquhart, Jill E. ; Harkness, Elaine F. ; Miles, Emma K. ; Bowers, Naomi L. ; Byers, Helen J. ; Bulman, Michael ; Gokhale, Carolyn ; Wallace, Andrew J. ; Newman, William G. ; Evans, D. Gareth

Human mutation, 2016-03, Vol.37 (3), p.250-256 [Periódico revisado por pares]

United States: Blackwell Publishing Ltd

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13
Deep intronic variant causes aberrant splicing of ATP7A in a family with a variable occipital horn syndrome phenotype
Deep intronic variant causes aberrant splicing of ATP7A in a family with a variable occipital horn syndrome phenotype
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Deep intronic variant causes aberrant splicing of ATP7A in a family with a variable occipital horn syndrome phenotype

Harkness, J. Robert ; Thomas, Huw B. ; Urquhart, Jill E. ; Jamieson, Peter ; O'Keefe, Raymond T. ; Kingston, Helen M. ; Deshpande, Charulata ; Newman, William G.

European journal of medical genetics, 2024-02, Vol.67, p.104907-104907, Article 104907 [Periódico revisado por pares]

Netherlands: Elsevier Masson SAS

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14
Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome
Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome
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Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome

Pottie, Lore ; Adamo, Christin S. ; Beyens, Aude ; Lütke, Steffen ; Tapaneeyaphan, Piyanoot ; De Clercq, Adelbert ; Salmon, Phil L. ; De Rycke, Riet ; Gezdirici, Alper ; Gulec, Elif Yilmaz ; Khan, Naz ; Urquhart, Jill E. ; Newman, William G. ; Metcalfe, Kay ; Efthymiou, Stephanie ; Maroofian, Reza ; Anwar, Najwa ; Maqbool, Shazia ; Rahman, Fatima ; Altweijri, Ikhlass ; Alsaleh, Monerah ; Abdullah, Sawsan Mohamed ; Al-Owain, Mohammad ; Hashem, Mais ; Houlden, Henry ; Alkuraya, Fowzan S. ; Sips, Patrick ; Sengle, Gerhard ; Callewaert, Bert

American journal of human genetics, 2021-06, Vol.108 (6), p.1095-1114 [Periódico revisado por pares]

United States: Elsevier Inc

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15
Mutations in CKAP2L, the Human Homolog of the Mouse Radmis Gene, Cause Filippi Syndrome
Mutations in CKAP2L, the Human Homolog of the Mouse Radmis Gene, Cause Filippi Syndrome
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Mutations in CKAP2L, the Human Homolog of the Mouse Radmis Gene, Cause Filippi Syndrome

Hussain, Muhammad Sajid ; Battaglia, Agatino ; Szczepanski, Sandra ; Kaygusuz, Emrah ; Toliat, Mohammad Reza ; Sakakibara, Shin-ichi ; Altmüller, Janine ; Thiele, Holger ; Nürnberg, Gudrun ; Moosa, Shahida ; Yigit, Gökhan ; Beleggia, Filippo ; Tinschert, Sigrid ; Clayton-Smith, Jill ; Vasudevan, Pradeep ; Urquhart, Jill E. ; Donnai, Dian ; Fryer, Alan ; Percin, Ferda ; Brancati, Francesco ; Dobbie, Angus ; Śmigiel, Robert ; Gillessen-Kaesbach, Gabriele ; Wollnik, Bernd ; Noegel, Angelika Anna ; Newman, William G. ; Nürnberg, Peter

American journal of human genetics, 2014-11, Vol.95 (5), p.622-632 [Periódico revisado por pares]

United States: Elsevier Inc

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16
MiR-204 is responsible for inherited retinal dystrophy associated with ocular coloboma
MiR-204 is responsible for inherited retinal dystrophy associated with ocular coloboma
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MiR-204 is responsible for inherited retinal dystrophy associated with ocular coloboma

Conte, Ivan ; Kristen D. Hadfield ; Sara Barbato ; Sabrina Carrella ; Mariateresa Pizzo ; Rajeshwari S. Bhat ; Annamaria Carissimo ; Marianthi Karali ; Louise F. Porter ; Jill Urquhart ; Sofie Hateley ; James O’Sullivan ; Forbes D. C. Manson ; Stephan C. F. Neuhauss ; Sandro Banfi ; Graeme C. M. Black

Proceedings of the National Academy of Sciences - PNAS, 2015-06, Vol.112 (25), p.E3236-E3245 [Periódico revisado por pares]

United States: National Academy of Sciences

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17
Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome
Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome
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Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome

Pottie, Lore ; Adamo, Christin S ; Beyens, Aude ; Lütke, Steffen ; Tapaneeyaphan, Piyanoot ; De Clercq, Adelbert ; Salmon, Phil L ; De Rycke, Riet ; Gezdirici, Alper ; Gulec, Elif Yilmaz ; Khan, Naz ; Urquhart, Jill E ; Newman, William G ; Metcalfe, Kay ; Efthymiou, Stephanie ; Maroofian, Reza ; Anwar, Najwa ; Maqbool, Shazia ; Rahman, Fatima ; Altweijri, Ikhlass ; Alsaleh, Monerah ; Abdullah, Sawsan Mohamed ; Al-Owain, Mohammad ; Hashem, Mais ; Houlden, Henry ; Alkuraya, Fowzan S ; Sips, Patrick ; Sengle, Gerhard ; Callewaert, Bert

American journal of human genetics, 2021-12, Vol.108 (12), p.2386-2388 [Periódico revisado por pares]

United States: Elsevier

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18
LRIG2 Mutations Cause Urofacial Syndrome
LRIG2 Mutations Cause Urofacial Syndrome
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LRIG2 Mutations Cause Urofacial Syndrome

Stuart, Helen M. ; Roberts, Neil A. ; Burgu, Berk ; Daly, Sarah B. ; Urquhart, Jill E. ; Bhaskar, Sanjeev ; Dickerson, Jonathan E. ; Mermerkaya, Murat ; Silay, Mesrur Selcuk ; Lewis, Malcolm A. ; Olondriz, M. Beatriz Orive ; Gener, Blanca ; Beetz, Christian ; Varga, Rita E. ; Gülpınar, Ömer ; Süer, Evren ; Soygür, Tarkan ; Özçakar, Zeynep B. ; Yalçınkaya, Fatoş ; Kavaz, Aslı ; Bulum, Burcu ; Gücük, Adnan ; Yue, Wyatt W. ; Erdogan, Firat ; Berry, Andrew ; Hanley, Neil A. ; McKenzie, Edward A. ; Hilton, Emma N. ; Woolf, Adrian S. ; Newman, William G.

American journal of human genetics, 2013-02, Vol.92 (2), p.259-264 [Periódico revisado por pares]

United States: Elsevier Inc

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19
Next-generation Sequencing in the Diagnosis of Metabolic Disease Marked by Pediatric Cataract
Next-generation Sequencing in the Diagnosis of Metabolic Disease Marked by Pediatric Cataract
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Next-generation Sequencing in the Diagnosis of Metabolic Disease Marked by Pediatric Cataract

Gillespie, Rachel L., PhD ; Urquhart, Jill, PhD ; Anderson, Beverley, MSc ; Williams, Simon, PhD ; Waller, Sarah, PhD ; Ashworth, Jane, FRCOphth ; Biswas, Susmito, FRCOphth ; Jones, Simon, MRCPCH ; Stewart, Fiona, FRCPCH ; Lloyd, I. Christopher, FRCOphth ; Clayton-Smith, Jill, MD, FRCP ; Black, Graeme C.M., DPhil, FRCOphth

Ophthalmology (Rochester, Minn.), 2016, Vol.123 (1), p.217-220 [Periódico revisado por pares]

United States: Elsevier Inc

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20
Non lethal Raine syndrome and differential diagnosis
Non lethal Raine syndrome and differential diagnosis
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Non lethal Raine syndrome and differential diagnosis

Elalaoui, Siham Chafai ; Al-Sheqaih, Nada ; Ratbi, Ilham ; Urquhart, Jill E ; O'Sullivan, James ; Bhaskar, Sanjeev ; Williams, Simon S ; Elalloussi, Mustapha ; Lyahyai, Jaber ; Sbihi, Leila ; Cherkaoui Jaouad, Imane ; Sbihi, Abdelhafid ; Newman, William G ; Sefiani, Abdelaziz

European journal of medical genetics, 2016-11, Vol.59 (11), p.577-583 [Periódico revisado por pares]

Netherlands: Elsevier Masson SAS

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