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1
Multiparametric prognostic scores in chronic heart failure with reduced ejection fraction: a long‐term comparison
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Artigo
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Multiparametric prognostic scores in chronic heart failure with reduced ejection fraction: a long‐term comparison

Agostoni, 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 Perrone

European journal of heart failure, 2018-04, Vol.20 (4), p.700-710 [Periódico revisado por pares]

Oxford, UK: John Wiley & Sons, Ltd

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2
Split‐hand/foot malformation 3 resulting from microduplications in 10q24 region in five patients from India
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Artigo
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Split‐hand/foot malformation 3 resulting from microduplications in 10q24 region in five patients from India

Langeh, Nitika ; Ansari, Mohammed Tahir ; Kabra, Madhulika ; Gupta, Neerja

American journal of medical genetics. Part A, 2024-05, Vol.194 (5), p.e63520-n/a [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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3
Solving the inverse conductivity problems of nonlinear elliptic equations by the superposition of homogenization functions method
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Artigo
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Solving the inverse conductivity problems of nonlinear elliptic equations by the superposition of homogenization functions method

Liu, Chein-Shan ; Chang, Chih-Wen

Applied mathematics letters, 2019-08, Vol.94, p.272-278 [Periódico revisado por pares]

Elsevier Ltd

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4
A classification system for split-hand/ foot malformation (SHFM): A proposal based on 3 pedigrees with WNT10B mutations
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Artigo
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A classification system for split-hand/ foot malformation (SHFM): A proposal based on 3 pedigrees with WNT10B mutations

Al 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 SAS

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5
Dermolipoma in a case of split hand/foot malformation: A report of a novel ophthalmic presentation in a rare disease
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Artigo
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Dermolipoma in a case of split hand/foot malformation: A report of a novel ophthalmic presentation in a rare disease

Khurana, Deepika ; Balasubramaniyan, Madhangi ; Hastak, Sheetal ; Chandrasekharan, Anjali

Indian journal of ophthalmology, 2022-07, Vol.70 (7), p.2613-2615 [Periódico revisado por pares]

Mumbai: Wolters Kluwer India Pvt. Ltd

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6
New pathogenic variant in DLX5 : New clues for a clinical spectrum from split-hand-foot malformation to fibular aplasia, tibial campomelia and oligosyndactyly
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Artigo
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New pathogenic variant in DLX5 : New clues for a clinical spectrum from split-hand-foot malformation to fibular aplasia, tibial campomelia and oligosyndactyly

Sifre-Ruiz, Anna ; Sagasta, Amaia ; Santos, Erika ; Perez de Nanclares, Guiomar ; Heath, Karen E

Frontiers in genetics, 2023-04, Vol.14, p.1165780-1165780 [Periódico revisado por pares]

Switzerland: Frontiers Media S.A

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7
BHLHA9 homozygous duplication in a consanguineous family: A challenge for genetic counseling
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Artigo
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BHLHA9 homozygous duplication in a consanguineous family: A challenge for genetic counseling

Chouery, Eliane ; Tahan, Elio ; Karam, Rim ; Pharoun, Jana ; Mehawej, Cybel ; Megarbane, Andre

American journal of medical genetics. Part A, 2023-04, Vol.191 (4), p.923-929 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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8
Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases
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Artigo
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Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases

AlAbdi, 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 S

Genome medicine, 2023-12, Vol.15 (1), p.114-114, Article 114 [Periódico revisado por pares]

England: BioMed Central Ltd

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9
WNT10B variants in split hand/foot malformation: Report of three novel families and review of the literature
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Artigo
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WNT10B variants in split hand/foot malformation: Report of three novel families and review of the literature

Brunelle, Perrine ; Jourdain, Anne‐Sophie ; Escande, Fabienne ; Martinovic, Jelena ; Dupont, Juliette ; Busa, Tiffany ; Moncla, Anne ; Frénois, Frédéric ; Stichelbout, Morgane ; Manouvrier‐Hanu, Sylvie ; Petit, Florence

American journal of medical genetics. Part A, 2019-07, Vol.179 (7), p.1351-1356 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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10
SHFLD3 phenotypes caused by 17p13.3 triplication/ duplication encompassing Fingerin (BHLHA9) invariably
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Artigo
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SHFLD3 phenotypes caused by 17p13.3 triplication/ duplication encompassing Fingerin (BHLHA9) invariably

Bukowska-Olech, Ewelina ; SowiÅska-Seidler, Anna ; Wierzba, Jolanta ; Jamsheer, Aleksander

Orphanet journal of rare diseases, 2022-08, Vol.17 (1), p.1-325, Article 325 [Periódico revisado por pares]

London: BioMed Central Ltd

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