المؤلفون: Makay, Prince, Mubungu, Gerrye, Mupuala, Aimée, Bluske, Krista, Brown, Carolyn, Schmidt, Sarah A, Ngole, Mamy, Fuanani, Patrick, Perry, Denise L, Lukusa, Prosper, Devriendt, Koenraad, Taft, Ryan J, Lumaka, Aimé, Lumaka Zola, Aimé

المصدر: American Journal of Medical Genetics. Part A (2022-06-07)

مصطلحات موضوعية: Central Africa, Dysmorphism, KLHL7, PERCHING syndrome, WGS, Genetics, Genetics (clinical), Life sciences, Genetics & genetic processes, Sciences du vivant, Génétique & processus génétiques

Relation: https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62855; 10.1002/ajmg.a.62855; urn:issn:1552-4825; urn:issn:1552-4833

URL الوصول: https://orbi.uliege.be/handle/2268/292368

المؤلفون: Zahid, Sarwar^Aff8, Branham, Kari^Aff8, Schlegel, Dana^Aff8, Pennesi, Mark E.^Aff9, Michaelides, Michel^Aff10, Heckenlively, John^Aff8, Jayasundera, Thiran^Aff8

المساهمون: Zahid, Sarwar^Aff1, Branham, Kari^Aff2, Schlegel, Dana^Aff3, Pennesi, Mark E.^Aff4, Michaelides, Michel^Aff5, Heckenlively, John^Aff6, Jayasundera, Thiran^Aff7

المصدر: Retinal Dystrophy Gene Atlas. :129-131

Degree: MS, MD
MS, CGC
MS, MPH, CGC
MD, PhD
MB, MD
MD

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المؤلفون: Elif Yilmaz Gulec, Gozde Tutku Turgut, Alper Gezdirici, Volkan Karaman, Fatma Nihal Ozturk, Sahin Avci, Tugba Kalayci, Leyli Senturk, Akif Ayaz, Hulya Kayserili, Zehra Oya Uyguner, Umut Altunoğlu

المصدر: Clinical geneticsREFERENCES. 102(3)

مصطلحات موضوعية: Arthrogryposis, Turkey, Facies, Dysphagia, Crisponi/Cold-Induced Sweating Syndrome (CS/CISS), Autoantigens, Episodic Hyperthermia, Death, Sudden, Cold-Induced Sweating, Genetics, Humans, Hyperhidrosis, Trismus, CRLF1, KLHL7, Receptors, Cytokine, Hand Deformities, Congenital, Molecular Biology, Genetics (clinical)

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7de1a1aae4a63a14374e90592c998b7e
https://pubmed.ncbi.nlm.nih.gov/35699517

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المؤلفون: Gülen Eda Utine, Laura Crisponi, Insa Buers, Lara Schöning, Giangiorgio Crisponi, Bilge Bayraktar-Tanyeri, Yvonne Nitschke, Puneet Kaur Sahi, Maja Di Rocco, Angela Loi, Giuseppe Zampino, Frank Rutsch, Ivana Persico

مصطلحات موضوعية: 0301 basic medicine, Disease, 030105 genetics & heredity, Crisponi syndrome, Bioinformatics, Sudden death, Diagnosis, Differential, MAGEL2, 03 medical and health sciences, Camptodactyly, Craniosynostoses, Death, Sudden, Intellectual Disability, Retinitis pigmentosa, Genetics, medicine, Humans, Hyperhidrosis, Receptors, Cytokine, Genetics (clinical), NALCN, business.industry, Differential diagnosis, pathogenesis and treatment concepts-, CLINICAL GENETICS, cilt.97, ss.209-221, 2020 [Buers I., Persico I., Schoening L., Nitschke Y., Di Rocco M., Loi A., Sahi P. K. , ÜTİNE G. E. , Bayraktar-Tanyeri B., Zampino G., et al., -Crisponi/cold-induced sweating syndrome], Facies, medicine.disease, Hypotonia, Cold-induced sweating, 030104 developmental biology, Scoliosis, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Cytokines, Ciliary neurotrophic factor receptor, Trismus, CLCF1, KLHL7, CRLF1, SCN2A, Differential diagnosis, medicine.symptom, KLHL7, business, Hand Deformities, Congenital, CLCF1, Retinitis Pigmentosa, Ciliary Neurotrophic Factor Receptor alpha Subunit

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::81cd89f58eccc135549527d5d38979fe
http://hdl.handle.net/10807/148343

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