يعرض 1 - 5 نتائج من 5 نتيجة بحث عن '"Christopher Balak"', وقت الاستعلام: 0.91s تنقيح النتائج
  1. 1
    An Integrated Phenotypic and Genotypic Approach Reveals a High‐Risk Subtype Association for EBF3 Missense Variants Affecting the Zinc Finger Domain

    المؤلفون: Cole A. Deisseroth, Vanesa C. Lerma, Christina L. Magyar, Jessica Mae Pfliger, Aarushi Nayak, Nathan D. Bliss, Ashley W. LeMaire, Vinodh Narayanan, Christopher Balak, Ginevra Zanni, Enza Maria Valente, Enrico Bertini, Paul J. Benke, Michael F. Wangler, Hsiao‐Tuan Chao

    المصدر: Annals of Neurology. 92:138-153

    مصطلحات موضوعية: Neurology, Autism Spectrum Disorder, Neurodevelopmental Disorders, Mutation, Missense, Humans, Zinc Fingers, Neurology (clinical), Transcription Factors

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c6924ddd64eb38328c16ee5847089edc
    https://doi.org/10.1002/ana.26359

    View record at Wiley
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  2. 2
    Progressive bilateral nuclear cataracts associated with cerebellar-facial-dental syndrome: case report, literature review, and identification of a new genetic variant

    المؤلفون: Christopher Balak, Newell Belnap, Matthew J. Huentelman, Brianna Pandey, James Plotnik, Keri Ramsey, Vinodh Narayanan

    المصدر: Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus. 25(6)

    مصطلحات موضوعية: Pathology, medicine.medical_specialty, TATA-Binding Protein Associated Factors, genetic structures, business.industry, Developmental Disabilities, Genetic disorder, Genetic variants, medicine.disease, eye diseases, Cataract, stomatognathic diseases, Ophthalmology, Cataracts, Cerebellum, Pediatrics, Perinatology and Child Health, Mutation, medicine, Humans, Identification (biology), Dysmorphic facial features, business, Child, Cerebellar hypoplasia

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f82c6b692124a85d11f9b6184904da82
    https://pubmed.ncbi.nlm.nih.gov/34628026

    View record from ScienceDirect Full Text via ClinicalKey
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  3. 3
    Integrated phenotypic and mutational approach defines EBF3-related HADD syndrome genotype-phenotype relationships

    المؤلفون: Vanesa Lerma, Nathan D. Bliss, Hsiao-Tuan Chao, Paul J. Benke, Michael F. Wangler, Cole A. Deisseroth, Ginevra Zanni, Vinodh Narayanan, Enrico Bertini, Ashley W. LeMaire, Aarushi Nayak, Enza Maria Valente, Christopher Balak

    مصطلحات موضوعية: Genetics, Zinc finger, Ataxia, Neurodevelopmental disorder, Cohort, Genotype, medicine, medicine.symptom, Biology, medicine.disease, Phenotype, Hypotonia, Genotype phenotype

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::4f13c5dd39796728306cd51bcbf169e1
    https://doi.org/10.1101/2020.12.07.20238691

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  4. 4
    FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability

    المؤلفون: Lance H. Rodan, Chelsea Chambers, Sophie Calvert, Montserrat Arellano, Elisabeth Gabau, Amy L Schneider, Jacques L. Michaud, Ariane Soldatos, Nino Spataro, M. Scott Perry, Gerarda Cappuccio, Christopher Balak, Mary D. King, Alison M. Muir, Heather C Mefford, Elsa Rossignol, Katherine L. Helbig, Carsten G. Bönnemann, Ingrid E. Scheffer, Candace T. Myers, Nicola Brunetti-Pierri, Kathleen M. Gorman, Sandra Donkervoort, Alice Basinger, Fadi F. Hamdan

    المساهمون: Schneider, A. L., Myers, C. T., Muir, A. M., Calvert, S., Basinger, A., Perry, M. S., Rodan, L., Helbig, K. L., Chambers, C., Gorman, K. M., King, M. D., Donkervoort, S., Soldatos, A., Bonnemann, C. G., Spataro, N., Gabau, E., Arellano, M., Cappuccio, G., Brunetti Pierri, N., Rossignol, E., Hamdan, F. F., Michaud, J. L., Balak, C., Mefford, H. C., Scheffer, I. E.

    المصدر: Epilepsia. 62

    مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Drug Resistant Epilepsy, Pediatrics, medicine.medical_specialty, Microcephaly, Movement disorders, Adolescent, Encephalopathy, Mutation, Missense, Progressive myoclonus epilepsy, profound intellectual disability, Craniofacial Abnormalities, Young Adult, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Intellectual Disability, Intellectual disability, FBXO28, Humans, Medicine, developmental and epileptic encephalopathy, Child, Frameshift Mutation, Brain Diseases, SKP Cullin F-Box Protein Ligases, business.industry, Infant, Electroencephalography, Myoclonic Epilepsies, Progressive, medicine.disease, Hypotonia, Phenotype, 030104 developmental biology, Neurology, Codon, Nonsense, Child, Preschool, Female, movement disorder, Neurology (clinical), medicine.symptom, business, Epileptic Syndromes, Spasms, Infantile, 030217 neurology & neurosurgery

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2262e352ceea1c64ba44a640c504385f
    https://doi.org/10.1111/epi.16784

    View record at Wiley
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  5. 5
    Author response for 'Two additional males with X-linked, syndromic mental retardation carry de novo mutations in HNRNPH2'

    المؤلفون: Meredith Sanchez-Castillo, Matthew De Both, Cherae Bilagody, Raj Gupta, Richa Pandey, Christopher Balak, Lorida Llaci, Ignazio S. Piras, Sampathkumar Rangasamy, Szabolcs Szelinger, Matthew J. Huentelman, Marcus Naymik, Vinodh Narayanan, Keri E. Ramsey, Newell Belnap, Wayne M. Jepsen

    مصطلحات موضوعية: Genetics, Carry (arithmetic), Biology, De novo mutations

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::28a8e8b9d830590c0dcf049f074145af
    https://doi.org/10.1111/cge.13580/v2/response1

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