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  1. 1161
    “…BACKGROUND: Recessive dystrophic epidermolysis bullosa (RDEB) is a rare, devastating blistering genodermatosis caused by mutations in the COL7A1 gene, which encodes for type VII collagen and is necessary for dermal-epidermal adhesion and integrity. …”
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    Long-term safety and efficacy of gene-corrected autologous keratinocyte grafts for recessive dystrophic epidermolysis bullosa
  2. 1162
    por Malladi, Rama K.
    Publicado 2022
    “…This paper demonstrates that supervised ML techniques can be used in recession and stock market crash (more than 20% drawdown) forecasting. …”
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    Application of Supervised Machine Learning Techniques to Forecast the COVID-19 U.S. Recession and Stock Market Crash
  3. 1163
    “…Autosomal recessive polycystic kidney disease (ARPKD) is an early onset genetic disorder characterized by numerous renal cysts resulting in end stage renal disease. …”
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    Temporal Profile of Kynurenine Pathway Metabolites in a Rodent Model of Autosomal Recessive Polycystic Kidney Disease
  4. 1164
    “…We provide the first study of two siblings with a novel autosomal recessive LRP1-related syndrome identified by rapid genome sequencing and overlapping multiple genetic models. …”
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    Autosomal recessive LRP1-related syndrome featuring cardiopulmonary dysfunction, bone dysmorphology, and corneal clouding
  5. 1165
    “…Due to the X-linked recessive inheritance pattern, DMD most commonly affects males, who are generally diagnosed between the age of 3–5 years. …”
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    An Ultra-Rare Manifestation of an X-Linked Recessive Disorder: Duchenne Muscular Dystrophy in a Female Patient
  6. 1166
    por Acharya, Ratna, Upadhyay, Kiran
    Publicado 2022
    “…Case Summary: Here, we describe a pair of siblings with HH associated with autosomal recessive polycystic kidney disease (ARPKD) and PMM2 mutation. …”
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    Hyperinsulinemic Hypoglycemia Due to PMM2 Mutation in Two Siblings with Autosomal Recessive Polycystic Kidney Disease
  7. 1167
    “…Purpose: To describe the phenotype and genotype of a patient with autosomal recessive bestrophinopathy (ARB) over a 13-year follow-up period. …”
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    Case report: Autosomal recessive bestrophinopathy with macular cysts and MNV over 13-year follow-up
  8. 1168
    “…PURPOSE: This study assesses the repeatability of quantitative autofluorescence (qAF) in a multicenter setting and evaluates qAF as the end point for clinical trials in recessive Stargardt disease 1 (STGD1). METHODS: A total of 102 patients with STGD1 underwent qAF imaging as part of the Stargardt Remofuscin Treatment Trial (STARTT; EudraCT No. 2018-001496-20). …”
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    Repeatability of Quantitative Autofluorescence Imaging in a Multicenter Study Involving Patients With Recessive Stargardt Disease 1
  9. 1169
    por Davis, Ray
    Publicado 2013
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    Leading Through Uncertainty: How Umpqua Bank Emerged from the Great Recession Better and Stronger than Ever
  10. 1170
    “…We found that he was affected by intermediate junctional epidermolysis bullosa (COL17A1, c.3766 + 1G > A, homozygous), Angelman syndrome (5,5 Mb deletion of 15q11.2‐q13.1), and autosomal recessive deafness type 57 (PDZD7, c.883C > T, homozygous).…”
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    Coexistence of junctional epidermolysis bullosa, autosomal recessive deafness type 57, and Angelman syndrome: A case report
  11. 1171
    “…Use of genetically resistant cultivars is an effective approach to manage bacterial spot. Two recessive resistance genes, bs5 and bs6, confer non-race-specific resistance against bacterial spot. …”
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    Mapping of the bs5 and bs6 non-race-specific recessive resistances against bacterial spot of pepper
  12. 1172
    “…The quantification of the number of steps during school recess was performed using a smart band. (3) Results: Percentiles were constructed for the number of steps (number of steps/recess). …”
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    Quantification of the Number of Steps in a School Recess by Means of Smart Bands: Proposal of Referential Values for Children and Adolescents
  13. 1173
    por Deng, Ruizhi, Medico-Salsench, Eva, Nikoncuk, Anita, Ramakrishnan, Reshmi, Lanko, Kristina, Kühn, Nikolas A., van der Linde, Herma C., Lor-Zade, Sarah, Albuainain, Fatimah, Shi, Yuwei, Yousefi, Soheil, Capo, Ivan, van den Herik, Evita Medici, van Slegtenhorst, Marjon, van Minkelen, Rick, Geeven, Geert, Mulder, Monique T., Ruijter, George J. G., Lütjohann, Dieter, Jacobs, Edwin H., Houlden, Henry, Pagnamenta, Alistair T., Metcalfe, Kay, Jackson, Adam, Banka, Siddharth, De Simone, Lenika, Schwaede, Abigail, Kuntz, Nancy, Palculict, Timothy Blake, Abbas, Safdar, Umair, Muhammad, AlMuhaizea, Mohammed, Colak, Dilek, AlQudairy, Hanan, Alsagob, Maysoon, Pereira, Catarina, Trunzo, Roberta, Karageorgou, Vasiliki, Bertoli-Avella, Aida M., Bauer, Peter, Bouman, Arjan, Hoefsloot, Lies H., van Ham, Tjakko J., Issa, Mahmoud, Zaki, Maha S., Gleeson, Joseph G., Willemsen, Rob, Kaya, Namik, Arold, Stefan T., Maroofian, Reza, Sanderson, Leslie E., Barakat, Tahsin Stefan
    Publicado 2023
    “…Our genetic and functional studies identify bi-allelic truncating variants in AMFR as a cause of a novel autosomal recessive HSP by altering lipid metabolism, which may potentially be therapeutically modulated using precision medicine with statins. …”
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    AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model
  14. 1174
    “…All cats underwent semi-cylindrical recession trochleoplasty (SCRT), medial fascial release and lateral imbrication for surgical repair of MPLs. …”
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    Short-term outcomes for surgical correction of feline medial patellar luxations via semi-cylindrical recession trochleoplasty
  15. 1175
    “…Objective: Variants of the polycystic kidney and hepatic disease 1 (PKHD1) gene are associated with autosomal recessive polycystic kidney disease (ARPKD). This study aimed to identify the genetic causes in a Chinese pedigree with ARPKD and design a minigene construct of the PKHD1 gene to investigate the impact of its variants on splicing. …”
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    A novel PKHD1 splicing variant identified in a fetus with autosomal recessive polycystic kidney disease
  16. 1176
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    Case report: Familial foveal retinoschisis caused by CRB1 gene mutation in a family with recessive inheritance
  17. 1177
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    SGCD Missense Variant in a Lagotto Romagnolo Dog with Autosomal Recessively Inherited Limb-Girdle Muscular Dystrophy
  18. 1178
    “…Aim The aim of the study was to evaluate the long-term effect of large horizontal rectus muscle recession on macula thickness using spectral domain optical coherence tomography (SD-OCT). …”
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    Evaluation of Macular Thickness Changes Following Large Horizontal Rectus Muscle Recession: A Prospective Cohort Study
  19. 1179
    “…CONCLUSION: The motor alignment after a single recession–resection procedure was satisfactory at the long-term in our cohort of sensory strabismus. …”
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    Long-term outcomes of single monocular resection–recession in adult sensory strabismus and factors affecting the postoperative drift
  20. 1180
    por Accogli, Andrea, Zaki, Maha S, Al-Owain, Mohammed, Otaif, Mansour Y, Jackson, Adam, Argilli, Emanuela, Chandler, Kate E, De Goede, Christian G E L, Cora, Tülün, Alvi, Javeria Raza, Eslahi, Atieh, Asl Mohajeri, Mahsa Sadat, Ashtiani, Setareh, Au, P Y Billie, Scocchia, Alicia, Alakurtti, Kirsi, Pagnamenta, Alistair T, Toosi, Mehran Beiraghi, Karimiani, Ehsan Ghayoor, Mojarrad, Majid, Arab, Fatemeh, Duymuş, Fahrettin, Scantlebury, Morris H, Yeşil, Gözde, Rosenfeld, Jill Anne, Türkyılmaz, Ayberk, Sağer, Safiye Güneş, Sultan, Tipu, Ashrafzadeh, Farah, Zahra, Tatheer, Rahman, Fatima, Maqbool, Shazia, Abdel-Hamid, Mohamed S, Issa, Mahmoud Y, Efthymiou, Stephanie, Bauer, Peter, Zifarelli, Giovanni, Salpietro, Vincenzo, Al-Hassnan, Zuhair, Banka, Siddharth, Sherr, Elliot H, Gleeson, Joseph G, Striano, Pasquale, Houlden, Henry, Severino, Mariasavina, Maroofian, Reza
    Publicado 2023
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    Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies
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