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Warsaw Breakage Syndrome – A further report, emphasising cutaneous findings
Warsaw Breakage Syndrome – A further report, emphasising cutaneous findings
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Warsaw Breakage Syndrome – A further report, emphasising cutaneous findings

Bailey, Claire ; Fryer, Alan E ; Greenslade, Mark

European journal of medical genetics, 2015-04, Vol.58 (4), p.235-237 [Periódico revisado por pares]

Netherlands: Elsevier Masson SAS

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2
Clinical and molecular consequences of disease-associated de novo mutations in SATB2
Clinical and molecular consequences of disease-associated de novo mutations in SATB2
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Clinical and molecular consequences of disease-associated de novo mutations in SATB2

Bengani, Hemant ; Handley, Mark ; Alvi, Mohsan ; Ibitoye, Rita ; Lees, Melissa ; Lynch, Sally Ann ; Lam, Wayne ; Fannemel, Madeleine ; Nordgren, Ann ; Malmgren, H. ; Kvarnung, M. ; Mehta, Sarju ; McKee, Shane ; Whiteford, Margo ; Stewart, Fiona ; Connell, Fiona ; Clayton-Smith, Jill ; Mansour, Sahar ; Mohammed, Shehla ; Fryer, Alan ; Morton, Jenny ; Grozeva, Detelina ; Asam, Tara ; Moore, David ; Sifrim, Alejandro ; McRae, Jeremy ; Hurles, Matthew E. ; Firth, Helen V. ; Raymond, F. Lucy ; Kini, Usha ; Nellåker, Christoffer ; FitzPatrick, David R.

Genetics in medicine, 2017-08, Vol.19 (8), p.900-908 [Periódico revisado por pares]

Nature Publishing Group

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3
Mutations in SNRPE, which Encodes a Core Protein of the Spliceosome, Cause Autosomal-Dominant Hypotrichosis Simplex
Mutations in SNRPE, which Encodes a Core Protein of the Spliceosome, Cause Autosomal-Dominant Hypotrichosis Simplex
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Mutations in SNRPE, which Encodes a Core Protein of the Spliceosome, Cause Autosomal-Dominant Hypotrichosis Simplex

Pasternack, Sandra M. ; Refke, Melanie ; Paknia, Elham ; Hennies, Hans Christian ; Franz, Thomas ; Schäfer, Niklas ; Fryer, Alan ; van Steensel, Maurice ; Sweeney, Elizabeth ; Just, Miquel ; Grimm, Clemens ; Kruse, Roland ; Ferrándiz, Carlos ; Nöthen, Markus M. ; Fischer, Utz ; Betz, Regina C.

American journal of human genetics, 2013-01, Vol.92 (1), p.81-87 [Periódico revisado por pares]

United States: Elsevier Inc

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4
A syndromic form of Pierre Robin sequence is caused by 5q23 deletions encompassing FBN2 and PHAX
A syndromic form of Pierre Robin sequence is caused by 5q23 deletions encompassing FBN2 and PHAX
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A syndromic form of Pierre Robin sequence is caused by 5q23 deletions encompassing FBN2 and PHAX

Ansari, Morad ; Rainger, Jacqueline K ; Murray, Jennie E ; Hanson, Isabel ; Firth, Helen V ; Mehendale, Felicity ; Amiel, Jeanne ; Gordon, Christopher T ; Percesepe, Antonio ; Mazzanti, Laura ; Fryer, Alan ; Ferrari, Paola ; Devriendt, Koenraad ; Temple, I. Karen ; FitzPatrick, David R

European journal of medical genetics, 2014-10, Vol.57 (10), p.587-595 [Periódico revisado por pares]

Netherlands: Elsevier Masson SAS

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5
Monitoring of suspended sediment load and transport in an agroforestry watershed on a karst plateau, Southwest China
Monitoring of suspended sediment load and transport in an agroforestry watershed on a karst plateau, Southwest China
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Monitoring of suspended sediment load and transport in an agroforestry watershed on a karst plateau, Southwest China

Cao, Le ; Wang, Shijie ; Peng, Tao ; Cheng, Qianyun ; Zhang, Lin ; Zhang, Zhicai ; Yue, Fujun ; Fryer, Alan E.

Agriculture, ecosystems & environment, 2020-09, Vol.299, p.106976, Article 106976 [Periódico revisado por pares]

Elsevier B.V

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6
Corrigendum to “Monitoring of suspended sediment load and transport in an agroforestry watershed on a karst plateau, Southwest China” [Agric. Ecosyst. Environ. 299 (September) (2020) 106976]
Corrigendum to “Monitoring of suspended sediment load and transport in an agroforestry watershed on a karst plateau, Southwest China” [Agric. Ecosyst. Environ. 299 (September) (2020) 106976]
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Corrigendum to “Monitoring of suspended sediment load and transport in an agroforestry watershed on a karst plateau, Southwest China” [Agric. Ecosyst. Environ. 299 (September) (2020) 106976]

Cao, Le ; Wang, Shijie ; Peng, Tao ; Cheng, Qianyun ; Zhang, Lin ; Zhang, Zhicai ; Yue, Fujun ; Fryer, Alan E.

Agriculture, ecosystems & environment, 2021-06, Vol.312, p.107275, Article 107275 [Periódico revisado por pares]

Elsevier B.V

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7
Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6
Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6
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Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6

Ratbi, Ilham ; Falkenberg, Kim D. ; Sommen, Manou ; Al-Sheqaih, Nada ; Guaoua, Soukaina ; Vandeweyer, Geert ; Urquhart, Jill E. ; Chandler, Kate E. ; Williams, Simon G. ; Roberts, Neil A. ; El Alloussi, Mustapha ; Black, Graeme C. ; Ferdinandusse, Sacha ; Ramdi, Hind ; Heimler, Audrey ; Fryer, Alan ; Lynch, Sally-Ann ; Cooper, Nicola ; Ong, Kai Ren ; Smith, Claire E.L. ; Inglehearn, Christopher F. ; Mighell, Alan J. ; Elcock, Claire ; Poulter, James A. ; Tischkowitz, Marc ; Davies, Sally J. ; Sefiani, Abdelaziz ; Mironov, Aleksandr A. ; Newman, William G. ; Waterham, Hans R. ; Van Camp, Guy

American journal of human genetics, 2015-10, Vol.97 (4), p.535-545 [Periódico revisado por pares]

United States: Elsevier Inc

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8
Whole-Exome-Sequencing Identifies Mutations in Histone Acetyltransferase Gene KAT6B in Individuals with the Say-Barber-Biesecker Variant of Ohdo Syndrome
Whole-Exome-Sequencing Identifies Mutations in Histone Acetyltransferase Gene KAT6B in Individuals with the Say-Barber-Biesecker Variant of Ohdo Syndrome
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Whole-Exome-Sequencing Identifies Mutations in Histone Acetyltransferase Gene KAT6B in Individuals with the Say-Barber-Biesecker Variant of Ohdo Syndrome

Clayton-Smith, Jill ; O'Sullivan, James ; Daly, Sarah ; Bhaskar, Sanjeev ; Day, Ruth ; Anderson, Beverley ; Voss, Anne K. ; Thomas, Tim ; Biesecker, Leslie G. ; Smith, Philip ; Fryer, Alan ; Chandler, Kate E. ; Kerr, Bronwyn ; Tassabehji, May ; Lynch, Sally-Ann ; Krajewska-Walasek, Malgorzata ; McKee, Shane ; Smith, Janine ; Sweeney, Elizabeth ; Mansour, Sahar ; Mohammed, Shehla ; Donnai, Dian ; Black, Graeme

American journal of human genetics, 2011-11, Vol.89 (5), p.675-681 [Periódico revisado por pares]

Cambridge, MA: Elsevier Inc

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9
Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals
Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals
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Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals

Kharbanda, Mira ; Pilz, Daniela T ; Tomkins, Susan ; Chandler, Kate ; Saggar, Anand ; Fryer, Alan ; McKay, Victoria ; Louro, Pedro ; Smith, Jill Clayton ; Burn, John ; Kini, Usha ; De Burca, Anna ; FitzPatrick, David R ; Kinning, Esther

European journal of medical genetics, 2017-02, Vol.60 (2), p.130-135 [Periódico revisado por pares]

Netherlands: Elsevier Masson SAS

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10
Noncoding copy-number variations are associated with congenital limb malformation
Noncoding copy-number variations are associated with congenital limb malformation
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Noncoding copy-number variations are associated with congenital limb malformation

Flöttmann, Ricarda ; Kragesteen, Bjørt K ; Geuer, Sinje ; Socha, Magdalena ; Allou, Lila ; Sowińska-Seidler, Anna ; Bosquillon de Jarcy, Laure ; Wagner, Johannes ; Jamsheer, Aleksander ; Oehl-Jaschkowitz, Barbara ; Wittler, Lars ; de Silva, Deepthi ; Kurth, Ingo ; Maya, Idit ; Santos-Simarro, Fernando ; Hülsemann, Wiebke ; Klopocki, Eva ; Mountford, Roger ; Fryer, Alan ; Borck, Guntram ; Horn, Denise ; Lapunzina, Pablo ; Wilson, Meredith ; Mascrez, Bénédicte ; Duboule, Denis ; Mundlos, Stefan ; Spielmann, Malte

Genetics in medicine, 2018-06, Vol.20 (6), p.599-607 [Periódico revisado por pares]

United States: Elsevier Limited

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