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1دورية أكاديمية
المؤلفون: Shruthi Mohan, Irene De Biase, Tatiana Yuzyuk, Alexa Dickson, Tiziano Pramparo, Stephanie Francis, Meredith Weaver, Raquel Fernandez, Sharon Suchy, Ann Moser, Rong Mao, Nancy Braverman
المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 100897- (2024)
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2949774424000438Test; https://doaj.org/toc/2949-7744Test
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2دورية أكاديمية
المؤلفون: Lillian R. Thistlethwaite, Xiqi Li, Lindsay C. Burrage, Kevin Riehle, Joseph G. Hacia, Nancy Braverman, Michael F. Wangler, Marcus J. Miller, Sarah H. Elsea, Aleksandar Milosavljevic
المصدر: Scientific Reports, Vol 12, Iss 1, Pp 1-17 (2022)
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2045-2322Test
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3دورية أكاديمية
المؤلفون: Emily Groopman, Amanda Thomas-Wilson, Shruthi Mohan, Jennifer Goldstein, Meredith Weaver, Raquel Fernandez, Heidi Wallis, Ljuba Caldovic, Nicholas Ah Mew, Irene De Biase, Ann Moser, Sharon Suchy, Tatiana Yuzyuk, Sarah Young, Saadet Mercimek-Andrews, Nancy Braverman, Rong Mao
المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100005- (2023)
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2949774423000055Test; https://doaj.org/toc/2949-7744Test
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4دورية أكاديمية
المؤلفون: Najmah Almuhsen, Simon‐pierre Guay, Marie Lefrancois, Cheryl Gauvin, AL Qasim Al Bahlani, Najma Ahmed, Christine Saint‐Martin, Tommy Gagnon, Paula Waters, Nancy Braverman, D. Buhas
المصدر: JIMD Reports, Vol 61, Iss 1, Pp 52-59 (2021)
مصطلحات موضوعية: ADK deficiency, adenosine, gestational alloimmune disease, hypermethioninemia, liver dysfunction in metabolic disease, methionine, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2192-8312Test
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5دورية أكاديمية
المؤلفون: Wedad Fallatah, Tara Smith, Wei Cui, Dushmanthi Jayasinghe, Erminia Di Pietro, Shawn A. Ritchie, Nancy Braverman
المصدر: Disease Models & Mechanisms, Vol 13, Iss 1 (2020)
مصطلحات موضوعية: ppi-1040, rhizomelic chondrodysplasia punctata, rcdp, peroxisomal disorder, plasmalogen, Medicine, Pathology, RB1-214
وصف الملف: electronic resource
العلاقة: http://dmm.biologists.org/content/13/1/dmm042499Test; https://doaj.org/toc/1754-8403Test; https://doaj.org/toc/1754-8411Test
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6دورية أكاديمية
المؤلفون: Srikanth Karnati, Gani Oruqaj, Harshavardhan Janga, Srinu Tumpara, Claudia Colasante, Paul P Van Veldhoven, Nancy Braverman, Adrian Pilatz, Thomas J Mariani, Eveline Baumgart-Vogt
المصدر: PLoS ONE, Vol 13, Iss 9, p e0203466 (2018)
وصف الملف: electronic resource
العلاقة: http://europepmc.org/articles/PMC6136741?pdf=renderTest; https://doaj.org/toc/1932-6203Test
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7
المصدر: American Journal of Medical Genetics Part A. 188:3229-3235
مصطلحات موضوعية: Chondrodysplasia Punctata, Chondrodysplasia Punctata, Rhizomelic, Genotype, Intellectual Disability, Plasmalogens, Genetics, Humans, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::80af882cd79aa5c3eb1580dbeb7cf692Test
https://doi.org/10.1002/ajmg.a.62959Test -
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المؤلفون: Jean-François Bouchard, Pierre Lachapelle, Samy Omri, Nancy Braverman, Devin S. McDougald, Ji Yun Song, Erminia Di Pietro, Bruno Cécyre, Catherine Argyriou, Anna Polosa, Joseph G. Hacia, Jean Bennett, Bradford H. Steele
المصدر: Molecular Therapy: Methods & Clinical Development, Vol 23, Iss, Pp 225-240 (2021)
مصطلحات موضوعية: medicine.medical_specialty, AAV therapy, QH426-470, Gene delivery, medicine.disease_cause, retinal gene therapy, 03 medical and health sciences, chemistry.chemical_compound, metabolic disorder gene therapy, 0302 clinical medicine, Ophthalmology, Genetics, medicine, Molecular Biology, Gene, 030304 developmental biology, PEX1, 0303 health sciences, Mutation, Retina, QH573-671, peroxisome biogenesis disorder, business.industry, Retinal, medicine.disease, 3. Good health, Zellweger spectrum disorder, medicine.anatomical_structure, chemistry, Reflex, Molecular Medicine, Cytology, business, 030217 neurology & neurosurgery, Retinopathy
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::27287904ece42349e0b1e5e750c3b06dTest
https://doi.org/10.1016/j.omtm.2021.09.002Test -
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المصدر: Ear Hear
مصطلحات موضوعية: Male, Hearing aid, medicine.medical_specialty, Hearing loss, medicine.medical_treatment, Deafness, Audiology, behavioral disciplines and activities, Article, Peroxisomal Disorders, Speech and Hearing, Bone conduction, otorhinolaryngologic diseases, medicine, Humans, Hearing Loss, Zellweger Syndrome, Retrospective Studies, business.industry, Medical record, Retrospective cohort study, Audiogram, Otorhinolaryngology, Female, medicine.symptom, business, Natural history study, Peroxisome biogenesis disorders
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3885ef5e66b8a36bb44616d5ee857347Test
https://doi.org/10.1097/aud.0000000000001126Test -
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المؤلفون: Janie Lavoie, Josianne Leblanc, Jessica Tardif, Pascal Morin, Nancy Braverman, Marie-Jacqueline Thomas, Michel Harvey, Annabelle Pratte, Tania Cruz Marino
المصدر: Human Genetics. 141:607-622
مصطلحات موضوعية: Canada, education.field_of_study, medicine.medical_specialty, Hearing loss, Population, Quebec, Deafness, Biology, Founder Effect, Human genetics, Otorhinolaryngology, Family medicine, Genetics, Etiology, medicine, French canadian, Humans, Medical genetics, medicine.symptom, Child, Hearing Loss, education, Genetics (clinical), Founder effect
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3db19ccaa787be3ec3f87eb8c0342d94Test
https://doi.org/10.1007/s00439-021-02332-wTest