Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
---|---|---|---|
1 |
Material Type: Artigo
|
![]() |
Multiparametric prognostic scores in chronic heart failure with reduced ejection fraction: a long‐term comparisonAgostoni, Piergiuseppe ; Paolillo, Stefania ; Mapelli, Massimo ; Gentile, Piero ; Salvioni, Elisabetta ; Veglia, Fabrizio ; Bonomi, Alice ; Corrà, Ugo ; Lagioia, Rocco ; Limongelli, Giuseppe ; Sinagra, Gianfranco ; Cattadori, Gaia ; Scardovi, Angela B. ; Metra, Marco ; Carubelli, Valentina ; Scrutinio, Domenico ; Raimondo, Rosa ; Emdin, Michele ; Piepoli, Massimo ; Magrì, Damiano ; Parati, Gianfranco ; Caravita, Sergio ; Re, Federica ; Cicoira, Mariantonietta ; Minà, Chiara ; Correale, Michele ; Frigerio, Maria ; Bussotti, Maurizio ; Oliva, Fabrizio ; Battaia, Elisa ; Belardinelli, Romualdo ; Mezzani, Alessandro ; Pastormerlo, Luigi ; Guazzi, Marco ; Badagliacca, Roberto ; Di Lenarda, Andrea ; Passino, Claudio ; Sciomer, Susanna ; Zambon, Elena ; Pacileo, Giuseppe ; Ricci, Roberto ; Apostolo, Anna ; Palermo, Pietro ; Contini, Mauro ; Clemenza, Francesco ; Marchese, Giovanni ; Gargiulo, Paola ; Binno, Simone ; Lombardi, Carlo ; Passantino, Andrea ; Filardi, Pasquale PerroneEuropean journal of heart failure, 2018-04, Vol.20 (4), p.700-710 [Periódico revisado por pares]Oxford, UK: John Wiley & Sons, LtdTexto completo disponível |
2 |
Material Type: Artigo
|
![]() |
Split‐hand/foot malformation 3 resulting from microduplications in 10q24 region in five patients from IndiaLangeh, Nitika ; Ansari, Mohammed Tahir ; Kabra, Madhulika ; Gupta, NeerjaAmerican journal of medical genetics. Part A, 2024-05, Vol.194 (5), p.e63520-n/a [Periódico revisado por pares]Hoboken, USA: John Wiley & Sons, IncTexto completo disponível |
3 |
Material Type: Artigo
|
![]() |
Solving the inverse conductivity problems of nonlinear elliptic equations by the superposition of homogenization functions methodLiu, Chein-Shan ; Chang, Chih-WenApplied mathematics letters, 2019-08, Vol.94, p.272-278 [Periódico revisado por pares]Elsevier LtdTexto completo disponível |
4 |
Material Type: Artigo
|
![]() |
A classification system for split-hand/ foot malformation (SHFM): A proposal based on 3 pedigrees with WNT10B mutationsAl Ghamdi, Malak A. ; Al-Qattan, Mohammad M. ; Hadadi, Ali ; Alabdulrahman, Abdulkareem ; Almuzzaini, Bader ; Alatwi, Nasser ; AlBalwi, Mohammed A.European journal of medical genetics, 2020-03, Vol.63 (3), p.103738-103738, Article 103738 [Periódico revisado por pares]Netherlands: Elsevier Masson SASTexto completo disponível |
5 |
Material Type: Artigo
|
![]() |
Dermolipoma in a case of split hand/foot malformation: A report of a novel ophthalmic presentation in a rare diseaseKhurana, Deepika ; Balasubramaniyan, Madhangi ; Hastak, Sheetal ; Chandrasekharan, AnjaliIndian journal of ophthalmology, 2022-07, Vol.70 (7), p.2613-2615 [Periódico revisado por pares]Mumbai: Wolters Kluwer India Pvt. LtdTexto completo disponível |
6 |
Material Type: Artigo
|
![]() |
New pathogenic variant in DLX5 : New clues for a clinical spectrum from split-hand-foot malformation to fibular aplasia, tibial campomelia and oligosyndactylySifre-Ruiz, Anna ; Sagasta, Amaia ; Santos, Erika ; Perez de Nanclares, Guiomar ; Heath, Karen EFrontiers in genetics, 2023-04, Vol.14, p.1165780-1165780 [Periódico revisado por pares]Switzerland: Frontiers Media S.ATexto completo disponível |
7 |
Material Type: Artigo
|
![]() |
BHLHA9 homozygous duplication in a consanguineous family: A challenge for genetic counselingChouery, Eliane ; Tahan, Elio ; Karam, Rim ; Pharoun, Jana ; Mehawej, Cybel ; Megarbane, AndreAmerican journal of medical genetics. Part A, 2023-04, Vol.191 (4), p.923-929 [Periódico revisado por pares]Hoboken, USA: John Wiley & Sons, IncTexto completo disponível |
8 |
Material Type: Artigo
|
![]() |
Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseasesAlAbdi, Lama ; Shamseldin, Hanan E ; Khouj, Ebtissal ; Helaby, Rana ; Aljamal, Bayan ; Alqahtani, Mashael ; Almulhim, Aisha ; Hamid, Halima ; Hashem, Mais O ; Abdulwahab, Firdous ; Abouyousef, Omar ; Jaafar, Amal ; Alshidi, Tarfa ; Al-Owain, Mohammed ; Alhashem, Amal ; Al Tala, Saeed ; Khan, Arif O ; Mardawi, Elham ; Alkuraya, Hisham ; Faqeih, Eissa ; Afqi, Manal ; Alkhalifi, Salwa ; Rahbeeni, Zuhair ; Hagos, Samya T ; Al-Ahmadi, Wijdan ; Nadeef, Seba ; Maddirevula, Sateesh ; Khabar, Khalid S A ; Putra, Alexander ; Angelov, Angel ; Park, Changsook ; Reyes-Ramos, Ana M ; Umer, Husen ; Ullah, Ikram ; Driguez, Patrick ; Fukasawa, Yoshinori ; Cheung, Ming Sin ; Gallouzi, Imed Eddine ; Alkuraya, Fowzan SGenome medicine, 2023-12, Vol.15 (1), p.114-114, Article 114 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |
9 |
Material Type: Artigo
|
![]() |
WNT10B variants in split hand/foot malformation: Report of three novel families and review of the literatureBrunelle, Perrine ; Jourdain, Anne‐Sophie ; Escande, Fabienne ; Martinovic, Jelena ; Dupont, Juliette ; Busa, Tiffany ; Moncla, Anne ; Frénois, Frédéric ; Stichelbout, Morgane ; Manouvrier‐Hanu, Sylvie ; Petit, FlorenceAmerican journal of medical genetics. Part A, 2019-07, Vol.179 (7), p.1351-1356 [Periódico revisado por pares]Hoboken, USA: John Wiley & Sons, IncTexto completo disponível |
10 |
Material Type: Artigo
|
![]() |
SHFLD3 phenotypes caused by 17p13.3 triplication/ duplication encompassing Fingerin (BHLHA9) invariablyBukowska-Olech, Ewelina ; SowiÅska-Seidler, Anna ; Wierzba, Jolanta ; Jamsheer, AleksanderOrphanet journal of rare diseases, 2022-08, Vol.17 (1), p.1-325, Article 325 [Periódico revisado por pares]London: BioMed Central LtdTexto completo disponível |