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Ermal Aliu

Showing results (1-10 of 17) with videos related to

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American Journal of Medical Genetics. Part A|October 8, 2022
ERI1: A case report of an autosomal recessive syndrome associated with developmental delay and distal limb abnormalitiesValbona Hoxha, Ermal Aliu
Case Reports in Genetics|January 20, 2023
A Case of Congenital Hypotonia and Developmental Delay in an Individual with a <i>De Novo</i> Variant Outside of the Canonical HX-Motif of ATN1Elizaveta Makarova, Nicole R Legro, Ermal Aliu
American Journal of Medical Genetics. Part A|November 19, 2021
Case report of atypical Leigh syndrome in an adolescent male with novel biallelic variants in NDUFAF5 and review of the natural history of NDUFAF5-related disordersNicole R Legro, Ashutosh Kumar, Ermal Aliu
Digestive Diseases and Sciences|January 22, 2015
Prospective pilot study of a single daily dosage of trientine for the treatment of Wilson diseaseAftab Ala, Ermal Aliu, Michael L Schilsky
Annals of Translational Medicine|February 12, 2019
Amino acid disordersErmal Aliu, Shibani Kanungo, Georgianne L Arnold
Case Reports in Genetics|November 24, 2022
A Case of Autosomal Recessive Intellectual Developmental Disorder Type 5 Presenting with EpilepsyMahpara Hasan, Gayatra Mainali, Ermal Aliu, et al.
CASE (Philadelphia, Pa.)|March 3, 2025
Arterial Tortuosity Syndrome: Keys to Early Diagnosis and Report of a New MutationRobert D Tunks, Kayla Miranda, Gretchen Hackett, et al.
Child Neurology Open|November 15, 2021
Pitt Hopkins-Like Syndrome 1 with Novel CNTNAP2 Mutation in SiblingsRea Mittal, Ashutosh Kumar, Roger Ladda, et al.
Ophthalmic Genetics|December 20, 2022
Ocular manifestations in a 2 year-old patient with a DYNC1H1 mutationRyan Kenney, Rucha Borkhetaria, Ajay Soni, et al.
Child Neurology Open|August 11, 2021
Acute Necrotizing Encephalopathy: 2 Case Reports on <i>RANBP2</i> MutationMolly Hartley, Anjana Sinha, Ashutosh Kumar, et al.
Pageof 2

Showing results (1-10 of 17) with videos related to

Sort By:
Pageof 2
American Journal of Medical Genetics. Part A|October 8, 2022
ERI1: A case report of an autosomal recessive syndrome associated with developmental delay and distal limb abnormalitiesValbona Hoxha, Ermal Aliu
Case Reports in Genetics|January 20, 2023
A Case of Congenital Hypotonia and Developmental Delay in an Individual with a <i>De Novo</i> Variant Outside of the Canonical HX-Motif of ATN1Elizaveta Makarova, Nicole R Legro, Ermal Aliu
American Journal of Medical Genetics. Part A|November 19, 2021
Case report of atypical Leigh syndrome in an adolescent male with novel biallelic variants in NDUFAF5 and review of the natural history of NDUFAF5-related disordersNicole R Legro, Ashutosh Kumar, Ermal Aliu
Digestive Diseases and Sciences|January 22, 2015
Prospective pilot study of a single daily dosage of trientine for the treatment of Wilson diseaseAftab Ala, Ermal Aliu, Michael L Schilsky
Annals of Translational Medicine|February 12, 2019
Amino acid disordersErmal Aliu, Shibani Kanungo, Georgianne L Arnold
Case Reports in Genetics|November 24, 2022
A Case of Autosomal Recessive Intellectual Developmental Disorder Type 5 Presenting with EpilepsyMahpara Hasan, Gayatra Mainali, Ermal Aliu, et al.
CASE (Philadelphia, Pa.)|March 3, 2025
Arterial Tortuosity Syndrome: Keys to Early Diagnosis and Report of a New MutationRobert D Tunks, Kayla Miranda, Gretchen Hackett, et al.
Child Neurology Open|November 15, 2021
Pitt Hopkins-Like Syndrome 1 with Novel CNTNAP2 Mutation in SiblingsRea Mittal, Ashutosh Kumar, Roger Ladda, et al.
Ophthalmic Genetics|December 20, 2022
Ocular manifestations in a 2 year-old patient with a DYNC1H1 mutationRyan Kenney, Rucha Borkhetaria, Ajay Soni, et al.
Child Neurology Open|August 11, 2021
Acute Necrotizing Encephalopathy: 2 Case Reports on <i>RANBP2</i> MutationMolly Hartley, Anjana Sinha, Ashutosh Kumar, et al.
Pageof 2