Spondyloocular Syndrome: A Novel XYLT2 Variant with Description of the Neonatal Phenotype

por Doddato, Gabriella, Fabbiani, Alessandra, Fallerini, Chiara, Bruttini, Mirella, Hadjistilianou, Theodora, Landi, Martino, Coradeschi, Caterina, Grosso, Salvatore, Tomasini, Barbara, Mencarelli, Maria Antonietta, Renieri, Alessandra, Ariani, Francesca
Publicado 2021

SPTBN5, Encoding the βV-Spectrin Protein, Leads to a Syndrome of Intellectual Disability, Developmental Delay, and Seizures

por Khan, Amjad, Bruno, Lucia Pia, Alomar, Fadhel, Umair, Muhammad, Pinto, Anna Maria, Khan, Abid Ali, Khan, Alamzeb, Saima, Fabbiani, Alessandra, Zguro, Kristina, Furini, Simone, Mencarelli, Maria Antonietta, Renieri, Alessandra, Resciniti, Sara, Peña-Guerra, Karla A., Guzmán-Vega, Francisco J., Arold, Stefan T., Ariani, Francesca, Khan, Shahid Niaz
Publicado 2022

Exome sequencing overrides formal genetics: ASPM mutations in a case study of apparent X-linked microcephalic intellectual deficit

por Ariani, F, Mari, F, Amitrano, S, Di Marco, C, Artuso, R, Scala, E, Meloni, I, Della Volpe, R, Rossi, A, Bokhoven, H, Renieri, A
Publicado 2013

RNA Sequencing of Populus x canadensis Roots Identifies Key Molecular Mechanisms Underlying Physiological Adaption to Excess Zinc

por Ariani, Andrea, Di Baccio, Daniela, Romeo, Stefania, Lombardi, Lara, Andreucci, Andrea, Lux, Alexander, Horner, David Stephen, Sebastiani, Luca
Publicado 2015

Operability of atrial septal defect with borderline pulmonary vascular resistance index: A study in developing country

por Lilyasari, Oktavia, Istisakinah, Rini, Ariani, Rina, Rahmat, Budi, Liastuti, Lies Dina, Kurniawati, Yovi, Muliawan, Hary Sakti, Sukmawan, Renan
Publicado 2022

Does the COVID-19 Pandemic Impact Reproductive Health?

por Ferreira, Ana Laura Carneiro Gomes, Correa, Maria Suely Medeiros, Pedrosa, Evelyne Nascimento, Silva, Flavia Anchielle Carvalho da, Hazin-Costa, Manuela Freire, Souza, Ariani Impieri
Publicado 2020

Correction: Association of NOD2 and IFNG single nucleotide polymorphisms with leprosy in the Amazon ethnic admixed population

por Leturiondo, André Luiz, Noronha, Ariani Batista, Mendonça, Carla Yael Ribeiro, Ferreira, Cynthia de Oliveira, Alvarado-Arnez, Lucia Elena, Manta, Fernanda Saloum de Neves, Bezerra, Ohanna Cavalcanti de Lima, de Carvalho, Elizeu Fagundes, Moraes, Milton Ozório, Rodrigues, Fabíola da Costa, Talhari, Carolina
Publicado 2023

Expanding the clinical spectrum associated with the PACS1 p.Arg203Trp mutational hot‐spot: Two additional Italian patients

por Bruno, Lucia Pia, Doddato, Gabriella, Baldassarri, Margherita, Rizzo, Caterina Lo, Resciniti, Sara, Bruttini, Mirella, Mirjam, Lista, Zguro, Kristina, Furini, Simone, Mencarelli, Maria Antonietta, Renieri, Alessandra, Ariani, Francesca
Publicado 2022

Asiatic acid in Centella asiatica extract towards morphological development in an intermittent hypoxia intrauterine embryo model and molecular prediction pathway of insulin-like gr...

por Ariani, Ariani, Ghofar, Imelda Febriana, Khotimah, Husnul, Nurdiana, Nurdiana, Rahayu, Masruroh
Publicado 2023

Predictors of neurocognitive and psychological disorders in children after intensive care admission: A prospective cohort study

por Yuliarto, Saptadi, Ramadhanti, Ardhanis, Khalasha, Takhta, Kadafi, Kurniawan Taufiq, Ariani, Ariani
Publicado 2023

RB1 Germline Variant Predisposing to a Rare Ovarian Germ Cell Tumor: A Case Report

por Gelli, Elisa, Fallerini, Chiara, Valentino, Floriana, Giliberti, Annarita, Castiglione, Francesca, Laschi, Lucrezia, Palmieri, Maria, Fabbiani, Alessandra, Tita, Rossella, Mencarelli, Maria Antonietta, Renieri, Alessandra, Ariani, Francesca
Publicado 2020

Exome Sequencing in BRCA1-2 Candidate Familias: The Contribution of Other Cancer Susceptibility Genes

por Doddato, Gabriella, Valentino, Floriana, Giliberti, Annarita, Papa, Filomena Tiziana, Tita, Rossella, Bruno, Lucia Pia, Resciniti, Sara, Fallerini, Chiara, Benetti, Elisa, Palmieri, Maria, Mencarelli, Maria Antonietta, Fabbiani, Alessandra, Bruttini, Mirella, Orrico, Alfredo, Baldassarri, Margherita, Fava, Francesca, Lopergolo, Diego, Lo Rizzo, Caterina, Lamacchia, Vittoria, Mannucci, Sara, Pinto, Anna Maria, Currò, Aurora, Mancini, Virginia, Mari, Francesca, Renieri, Alessandra, Ariani, Francesca
Publicado 2021

Challenges in the treatment of late-identified untreated congenital adrenal hyperplasia due to CYP11B1 deficiency: Lessons from a developing country

por Utari, Agustini, Faradz, Sultana M. H., Ediati, Annastasia, Rinne, Tuula, Ariani, Mahayu Dewi, Juniarto, Achmad Zulfa, Drop, Stenvert L. S., van Herwaarden, Antonius E., Claahsen-van der Grinten, Hedi L.
Publicado 2022

Factors associated with anti-retroviral therapy adherence among patients living with HIV during the COVID-19 pandemic: A cross-sectional study

por Suryana, Ketut, Suharsono, Hamong, Indrayani, Agung Wiwiek, Wisma Ariani, Luh Nyoman Arya, Putra, Wayan Wahyu Semara, Yaniswari, Ni Made Dwita
Publicado 2022

Indonesian first national suicide prevention strategy: key findings from the qualitative situational analysis

por Onie, Sandersan, Vina, Ashra, Taufik, Kezia, Abraham, Juneman, Setiyawati, Diana, Colucci, Erminia, Nilam, Jessica F., Onie, Stephanie, Hunt, Aliza, Saputra, Arif Fajar, Hidayati, Nurul E., Harsono, Christine, Bestari, Damba, Muhdi, Nalini, Wolter, Alegra, Liem, Andrian, Rochmawati, Ida, Ardian, Jiemi, Prasojo, Radityo Eko, Heri Setiawan, Yohanes Aristanto, Heny, Grace, Purnawan, Halim, Gamayanti, Indria Laksmi, Senosoenoto, Herwindra Aiko, Jenarut, Marthen, Prawira, Benny, Trianggoro, Cahyo, Warbung, Edberg, Novita Mudjianto, Catherine Lily, Ariani, Anna Surti, Irmansyah, Irmansyah, Mulia, Musdah, Badudu, Jussar, Badudu, Maranatha, Kumolohadi, Retno, Zein, Rizqy Amelia, Mahadi, Stephanie, Wongkaren, Turro, Josifovski, Natasha, Larsen, Mark E.
Publicado 2023

Primary CNS Extranodal Marginal Zone B-Cell Lymphoma: A Case Series of 2 Patients Treated with External Beam Radiation Therapy

por Ariani, Rojine, Ballas, Leslie
Publicado 2021

Tablet-Based Well-Being Check for the Elderly: Development and Evaluation of Usability and Acceptability

por Ray, Pradeep, Li, Junhua, Ariani, Arni, Kapadia, Vasvi
Publicado 2017

Liver Involvement in Patients with Rare MBOAT7 Variants and Intellectual Disability: A Case Report and Literature Review

por Ronzoni, Luisa, Mureddu, Matteo, Malvestiti, Francesco, Moretti, Vittoria, Bianco, Cristiana, Periti, Giulia, Baldassarri, Margherita, Ariani, Francesca, Carrer, Anna, Pelusi, Serena, Renieri, Alessandra, Prati, Daniele, Valenti, Luca
Publicado 2023

Letter in response to article in journal of infection: Impact of routine infant BCG vaccination on COVID-19

por Levi, Miriam, Miglietta, Alessandro, Romeo, Gianpaolo, Bartolacci, Simone, Ariani, Filippo, Cipriani, Francesco, De Filippo, Carlotta, Cavalieri, Duccio, Balzi, Daniela
Publicado 2021

A Parsonage-Turner Syndrome secondary to Parvovirus B19 infection

por Mozzani, Flavio, Marino, Noemi Giuliana, Becciolini, Andrea, Di Donato, Eleonora, Ariani, Alarico, Santilli, Daniele
Publicado 2021