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Digenic FLNA and UCHL1 variants resulting in a complex phenotype
Digenic FLNA and UCHL1 variants resulting in a complex phenotype
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Digenic FLNA and UCHL1 variants resulting in a complex phenotype

Pernice, Helena F ; O'Donnell, Luke F ; Rossor, Alexander M ; Laura, Matilde ; Record, Christopher J ; Skorupinska, Mariola ; Blake, Julian ; Poh, Roy ; Polke, James ; Reilly, Mary M

Journal of the peripheral nervous system : JPNS, 2024, Vol.29 (1), p.111-115

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2
Unilateral Cataract and Retinitis Pigmentosa in a Patient With Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract (PHARC) Syndrome: A Case Report
Unilateral Cataract and Retinitis Pigmentosa in a Patient With Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract (PHARC) Syndrome: A Case Report
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Unilateral Cataract and Retinitis Pigmentosa in a Patient With Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract (PHARC) Syndrome: A Case Report

Hernández-Emanuelli, Miguel E ; Emanuelli, Andres ; Izquierdo, Natalio

Cureus, 2024, Vol.16 (2), p.e54295-e54295

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3
A Lithuanian Case of Tyrosinemia Type 1 with a Literature Review: A Rare Cause of Acute Liver Failure in Childhood
A Lithuanian Case of Tyrosinemia Type 1 with a Literature Review: A Rare Cause of Acute Liver Failure in Childhood
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A Lithuanian Case of Tyrosinemia Type 1 with a Literature Review: A Rare Cause of Acute Liver Failure in Childhood

Rokaitė, Rūta ; Čibirkaitė, Agnė ; Zeleckytė, Vykinta ; Lazdinytė, Gabija ; Dženkaitis, Mindaugas

Medicina (Kaunas, Lithuania), 2024, Vol.60 (1)

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4
A Novel PTRH2 Gene Mutation Causing Infantile-onset Multisystem Neurologic, Endocrine, and Pancreatic Disease in a Bahraini Patient
A Novel PTRH2 Gene Mutation Causing Infantile-onset Multisystem Neurologic, Endocrine, and Pancreatic Disease in a Bahraini Patient
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A Novel PTRH2 Gene Mutation Causing Infantile-onset Multisystem Neurologic, Endocrine, and Pancreatic Disease in a Bahraini Patient

Isa, Hasan M ; Khalaf, Sara D ; Janahi, Sara ; Naser, Mohamed M ; Al Hamad, Noor ; Alhaddar, Hasan ; Busehail, Maryam

Oman medical journal, 2024, Vol.39 (1), p.e599-e599

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5
Dual enzyme therapy improves adherence to chemotherapy in a patient with gaucher disease and Ewing sarcoma
Dual enzyme therapy improves adherence to chemotherapy in a patient with gaucher disease and Ewing sarcoma
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Dual enzyme therapy improves adherence to chemotherapy in a patient with gaucher disease and Ewing sarcoma

Lucari, Brandon ; Tallis, Eran ; Sutton, Vernon Reid ; Porea, Timothy

Pediatric Hematology and Oncology, 2023, Vol.40 (4), p.422-428

Taylor & Francis

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6
OCT imaging of macular cysts and treatment response with nepafenac in mucopolysaccharidosis type 1
OCT imaging of macular cysts and treatment response with nepafenac in mucopolysaccharidosis type 1
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OCT imaging of macular cysts and treatment response with nepafenac in mucopolysaccharidosis type 1

Yılmaz Çebi, Aslıhan ; Hepokur, Mustafa

Ophthalmic Genetics, 2023, Vol.44 (3), p.273-275

Taylor & Francis

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7
Updates on the study of lysosomal protein dynamics: possibilities for the clinic
Updates on the study of lysosomal protein dynamics: possibilities for the clinic
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Updates on the study of lysosomal protein dynamics: possibilities for the clinic

Arora, Dhriti ; Hackenberg, Yannic ; Li, Jiaran ; Winter, Dominic

Expert Review of Proteomics, 2023, Vol.20 (1-3), p.47-55

Taylor & Francis

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8
Phytochemical analysis, antioxidant and hypoglycemic activities of a methanol extract from Stachys brachyclada de Noé ex Coss. leaves
Phytochemical analysis, antioxidant and hypoglycemic activities of a methanol extract from Stachys brachyclada de Noé ex Coss. leaves
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Phytochemical analysis, antioxidant and hypoglycemic activities of a methanol extract from Stachys brachyclada de Noé ex Coss. leaves

Lemoui, Redouane ; Picerno, Patrizia ; Benyahia, Samira ; Mencherini, Teresa ; Vassallo, Antonio ; Armentano, Maria Francesca ; Noman, Labib ; Bouchama, Khaled ; Rastrelli, Luca ; Aquino, Rita Patrizia

Natural Product Research, 2023, Vol.ahead-of-print (ahead-of-print), p.1-6

Taylor & Francis

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9
Bidirectional roles of the Ccr4-Not complex in regulating autophagy before and after nitrogen starvation
Bidirectional roles of the Ccr4-Not complex in regulating autophagy before and after nitrogen starvation
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Bidirectional roles of the Ccr4-Not complex in regulating autophagy before and after nitrogen starvation

Yin, Zhangyuan ; Zhang, Zhihai ; Lei, Yuchen ; Klionsky, Daniel J.

Autophagy, 2023, Vol.19 (2), p.415-425

Taylor & Francis

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10
Yokenella regensburgei urinary tract infection in an immunocompetent patient: a case report
Yokenella regensburgei urinary tract infection in an immunocompetent patient: a case report
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Yokenella regensburgei urinary tract infection in an immunocompetent patient: a case report

V, Annie Sheeba ; Suji, Thangamani ; Jayanth, Selvin Theodore ; Sahni, Rani Diana

Access microbiology, 2023, Vol.5 (10)

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