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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2008 1
2009 2
2010 1
2012 1
2013 2
2015 1
2016 1
2017 1
2018 1
2019 2
2020 1
2021 1
2022 2
2023 2
2024 0

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16 results

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Page 1
An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients.
Bonnet C, Riahi Z, Chantot-Bastaraud S, Smagghe L, Letexier M, Marcaillou C, Lefèvre GM, Hardelin JP, El-Amraoui A, Singh-Estivalet A, Mohand-Saïd S, Kohl S, Kurtenbach A, Sliesoraityte I, Zobor D, Gherbi S, Testa F, Simonelli F, Banfi S, Fakin A, Glavač D, Jarc-Vidmar M, Zupan A, Battelino S, Martorell Sampol L, Claveria MA, Catala Mora J, Dad S, Møller LB, Rodriguez Jorge J, Hawlina M, Auricchio A, Sahel JA, Marlin S, Zrenner E, Audo I, Petit C. Bonnet C, et al. Among authors: martorell sampol l. Eur J Hum Genet. 2016 Dec;24(12):1730-1738. doi: 10.1038/ejhg.2016.99. Epub 2016 Jul 27. Eur J Hum Genet. 2016. PMID: 27460420 Free PMC article.
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia.
Solaki M, Baumann B, Reuter P, Andreasson S, Audo I, Ayuso C, Balousha G, Benedicenti F, Birch D, Bitoun P, Blain D, Bocquet B, Branham K, Català-Mora J, De Baere E, Dollfus H, Falana M, Giorda R, Golovleva I, Gottlob I, Heckenlively JR, Jacobson SG, Jones K, Jägle H, Janecke AR, Kellner U, Liskova P, Lorenz B, Martorell-Sampol L, Messias A, Meunier I, Belga Ottoni Porto F, Papageorgiou E, Plomp AS, de Ravel TJL, Reiff CM, Renner AB, Rosenberg T, Rudolph G, Salati R, Sener EC, Sieving PA, Stanzial F, Traboulsi EI, Tsang SH, Varsanyi B, Weleber RG, Zobor D, Stingl K, Wissinger B, Kohl S. Solaki M, et al. Among authors: martorell sampol l. Hum Mutat. 2022 Jul;43(7):832-858. doi: 10.1002/humu.24371. Epub 2022 Apr 14. Hum Mutat. 2022. PMID: 35332618 Review.
Deep-intronic variants in CNGB3 cause achromatopsia by pseudoexon activation.
Weisschuh N, Sturm M, Baumann B, Audo I, Ayuso C, Bocquet B, Branham K, Brooks BP, Catalá-Mora J, Giorda R, Heckenlively JR, Hufnagel RB, Jacobson SG, Kellner U, Kitsiou-Tzeli S, Matet A, Martorell Sampol L, Meunier I, Rudolph G, Sharon D, Stingl K, Streubel B, Varsányi B, Wissinger B, Kohl S. Weisschuh N, et al. Among authors: martorell sampol l. Hum Mutat. 2020 Jan;41(1):255-264. doi: 10.1002/humu.23920. Epub 2019 Sep 30. Hum Mutat. 2020. PMID: 31544997 Free PMC article.
Expanding CEP290 mutational spectrum in ciliopathies.
Travaglini L, Brancati F, Attie-Bitach T, Audollent S, Bertini E, Kaplan J, Perrault I, Iannicelli M, Mancuso B, Rigoli L, Rozet JM, Swistun D, Tolentino J, Dallapiccola B, Gleeson JG, Valente EM; International JSRD Study Group; Zankl A, Leventer R, Grattan-Smith P, Janecke A, D'Hooghe M, Sznajer Y, Van Coster R, Demerleir L, Dias K, Moco C, Moreira A, Kim CA, Maegawa G, Petkovic D, Abdel-Salam GM, Abdel-Aleem A, Zaki MS, Marti I, Quijano-Roy S, Sigaudy S, de Lonlay P, Romano S, Touraine R, Koenig M, Lagier-Tourenne C, Messer J, Collignon P, Wolf N, Philippi H, Kitsiou Tzeli S, Halldorsson S, Johannsdottir J, Ludvigsson P, Phadke SR, Udani V, Stuart B, Magee A, Lev D, Michelson M, Ben-Zeev B, Fischetto R, Benedicenti F, Stanzial F, Borgatti R, Accorsi P, Battaglia S, Fazzi E, Giordano L, Pinelli L, Boccone L, Bigoni S, Ferlini A, Donati MA, Caridi G, Divizia MT, Faravelli F, Ghiggeri G, Pessagno A, Briguglio M, Briuglia S, Salpietro CD, Tortorella G, Adami A, Castorina P, Lalatta F, Marra G, Riva D, Scelsa B, Spaccini L, Uziel G, Del Giudice E, Laverda AM, Ludwig K, Permunian A, Suppiej A, Signorini S, Uggetti C, Battini R, Di Giacomo M, Cilio MR, Di Sabato ML, Leuzzi V, Parisi P,… See abstract for full author list ➔ Travaglini L, et al. Among authors: martorell sampol l. Am J Med Genet A. 2009 Oct;149A(10):2173-80. doi: 10.1002/ajmg.a.33025. Am J Med Genet A. 2009. PMID: 19764032 Free PMC article.
Encephalopathies with intracranial calcification in children: clinical and genetic characterization.
Tonduti D, Panteghini C, Pichiecchio A, Decio A, Carecchio M, Reale C, Moroni I, Nardocci N, Campistol J, Garcia-Cazorla A, Perez Duenas B; Cerebral Calcification International Study Group; Chiapparini L, Garavaglia B, Orcesi S. Tonduti D, et al. Orphanet J Rare Dis. 2018 Aug 16;13(1):135. doi: 10.1186/s13023-018-0854-y. Orphanet J Rare Dis. 2018. PMID: 30111349 Free PMC article.
Heterozygous mutations of ATP8B1, ABCB11 and ABCB4 cause mild forms of Progressive Familial Intrahepatic Cholestasis in a pediatric cohort.
Mínguez Rodríguez B, Molera Busoms C, Martorell Sampol L, García Romero R, Colomé Rivero G, Martín de Carpi J. Mínguez Rodríguez B, et al. Among authors: martorell sampol l. Gastroenterol Hepatol. 2022 Oct;45(8):585-592. doi: 10.1016/j.gastrohep.2021.12.005. Epub 2021 Dec 20. Gastroenterol Hepatol. 2022. PMID: 34942279 English, Spanish.
Neonatal Marfan Syndrome: A Rare, Severe, and Life-Threatening Genetic Disease.
Solé-Ribalta A, Rodríguez-Fanjul X, Carretero-Bellon JM, Pascual-Sala C, Martorell-Sampol L, Bobillo-Pérez S, Morillo-Palomo AM. Solé-Ribalta A, et al. Among authors: martorell sampol l. J Pediatr. 2019 Aug;211:221-221.e2. doi: 10.1016/j.jpeds.2019.03.033. Epub 2019 Apr 30. J Pediatr. 2019. PMID: 31053350 No abstract available.
Pseudohypoaldosteronism types I and II: little more than a name in common.
Casas-Alba D, Vila Cots J, Monfort Carretero L, Martorell Sampol L, Zennaro MC, Jeunemaitre X, Camacho Díaz JA. Casas-Alba D, et al. Among authors: martorell sampol l. J Pediatr Endocrinol Metab. 2017 May 1;30(5):597-601. doi: 10.1515/jpem-2016-0467. J Pediatr Endocrinol Metab. 2017. PMID: 28593901
[Griscelli-Prunieras syndrome: report of two cases].
González Carretero P, Noguera Julian A, Ricart Campos S, Fortuny Guasch C, Martorell Sampol L. González Carretero P, et al. Among authors: martorell sampol l. An Pediatr (Barc). 2009 Feb;70(2):164-7. doi: 10.1016/j.anpedi.2008.10.005. Epub 2008 Dec 6. An Pediatr (Barc). 2009. PMID: 19217573 Free article. Spanish.
16 results