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1Academic Journal
المؤلفون: Iwama, Hisakazu, Gojobori, Takashi, Li, Wen-Hsiung
المصدر: Proceedings of the National Academy of Sciences of the United States of America, 2004 Dec 01. 101(49), 17156-17161.
URL الوصول: https://www.jstor.org/stable/3373976
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2Academic Journal
المساهمون: Jeong-Oh Shin, Jong-Min Lee, Jinwoong Bok, Han-Sung Jung, Bok, Jin Woong
مصطلحات موضوعية: Zfhx1a, Zfhx1b, circumvallate papilla, submandibular gland, eye
وصف الملف: application/pdf
Relation: Korean Journal of Oral Anatomy (대한구강해부학회지); J02083; OAK-2018-10105; https://ir.ymlib.yonsei.ac.kr/handle/22282913/167115; T201805202; Korean Journal of Oral Anatomy (대한구강해부학회지), Vol.39(1) : 1-8, 2018; 58095
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3Academic Journal
المؤلفون: Ivanovski, Ivan, Djuric, Olivera, Caraffi, Stefano Giuseppe, Santodirocco, Daniela, Pollazzon, Marzia, Rosato, Simonetta, Cordelli, Duccio Maria, Abdalla, Ebtesam, Accorsi, Patrizia, Adam, Margaret P, Ajmone, Paola Francesca, Badura-Stronka, Magdalena, Baldo, Chiara, Baldi, Maddalena, Bayat, Allan, Bigoni, Stefania, Bonvicini, Federico, Breckpot, Jeroen, Callewaert, Bert, Cocchi, Guido, Cuturilo, Goran, De Brasi, Daniele, Devriendt, Koenraad, Dinulos, Mary Beth, Hjortshøj, Tina Duelund, Epifanio, Roberta, Faravelli, Francesca, Fiumara, Agata, Formisano, Debora, Giordano, Lucio, Grasso, Marina, Grønborg, Sabine, Iodice, Alessandro, Iughetti, Lorenzo, Kuburovic, Vladimir, Kutkowska-Kazmierczak, Anna, Lacombe, Didier, Lo Rizzo, Caterina, Luchetti, Anna, Malbora, Baris, Mammi, Isabella, Mari, Francesca, Montorsi, Giulia, Moutton, Sebastien, Møller, Rikke S, Muschke, Petra, Nielsen, Jens Erik Klint, Obersztyn, Ewa, Pantaleoni, Chiara, Pellicciari, Alessandro, Pisanti, Maria Antonietta, Prpic, Igor, Poch-Olive, Maria Luisa, Raviglione, Federico, Renieri, Alessandra, Ricci, Emilia, Rivieri, Francesca, Santen, Gijs W, Savasta, Salvatore, Scarano, Gioacchino, Schanze, Ina, Selicorni, Angelo, Silengo, Margherita, Smigiel, Robert, Spaccini, Luigina, Sorge, Giovanni, Szczaluba, Krzysztof, Tarani, Luigi, Tone, Luis Gonzaga, Toutain, Annick, Trimouille, Aurelien, Valera, Elvis Terci, Vergano, Samantha Schrier, Zanotta, Nicoletta, Zenker, Martin, Conidi, Andrea, Zollino, Marcella, Rauch, Anita, Zweier, Christiane, Garavelli, Livia
المصدر: GENETICS IN MEDICINE ; ISSN: 1098-3600 ; ISSN: 1530-0366
مصطلحات موضوعية: Medicine and Health Sciences, Biology and Life Sciences, Hirschsprung, intellectual disability, management, Mowat-Wilson syndrome, ZEB2, SMAD-INTERACTING PROTEIN-1, BOX 1B GENE, HIRSCHSPRUNG-DISEASE, MENTAL-RETARDATION, CLINICAL-FEATURES, ZFHX1B MUTATIONS, DELINEATION, SIBLINGS, SPECTRUM, RECURRENCE
وصف الملف: application/pdf
Relation: https://biblio.ugent.be/publication/8551657; http://hdl.handle.net/1854/LU-8551657; http://dx.doi.org/10.1038/gim.2017.221; https://biblio.ugent.be/publication/8551657/file/8551658
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4Academic Journal
المؤلفون: Garavelli, Livia, Ivanovski, Ivan, Caraffi, Stefano Giuseppe, Santodirocco, Daniela, Pollazzon, Marzia, Cordelli, Duccio Maria, Abdalla, Ebtesam, Accorsi, Patrizia, Adam, Margaret P, Baldo, Chiara, Bayat, Allan, Belligni, Elga, Bonvicini, Federico, Breckpot, Jeroen, Callewaert, Bert, Cocchi, Guido, Cuturilo, Goran, Devriendt, Koenraad, Dinulos, Mary Beth, Djuric, Olivera, Epifanio, Roberta, Faravelli, Francesca, Formisano, Debora, Giordano, Lucio, Grasso, Marina, Grønborg, Sabine, Iodice, Alessandro, Iughetti, Lorenzo, Lacombe, Didier, Maggi, Massimo, Malbora, Baris, Mammi, Isabella, Moutton, Sebastien, Møller, Rikke, Muschke, Petra, Napoli, Manuela, Pantaleoni, Chiara, Pascarella, Rosario, Pellicciari, Alessandro, Poch-Olive, Maria Luisa, Raviglione, Federico, Rivieri, Francesca, Russo, Carmela, Savasta, Salvatore, Scarano, Gioacchino, Selicorni, Angelo, Silengo, Margherita, Sorge, Giovanni, Tarani, Luigi, Tone, Luis Gonzaga, Toutain, Annick, Trimouille, Aurelien, Valera, Elvis Terci, Vergano, Samantha Schrier, Zanotta, Nicoletta, Zollino, Marcella, Dobyns, William B, Paciorkowski, Alex R
المصدر: GENETICS IN MEDICINE ; ISSN: 1098-3600 ; ISSN: 1530-0366
مصطلحات موضوعية: Medicine and Health Sciences, agenesis of corpus callosum, brain MRI, genotype-phenotype correlation, Mowat-Wilson syndrome, ZEB2, SMAD-INTERACTING PROTEIN-1, CHARACTERISTIC FACIAL FEATURES, CENTRAL-NERVOUS-SYSTEM, BOX 1B GENE, HIRSCHSPRUNG-DISEASE, MENTAL-RETARDATION, ZFHX1B SIP1, MUTATIONS, EXPRESSION, PHENOTYPE
وصف الملف: application/pdf
Relation: https://biblio.ugent.be/publication/8510291; http://hdl.handle.net/1854/LU-8510291; http://dx.doi.org/10.1038/gim.2016.176; https://biblio.ugent.be/publication/8510291/file/8510294
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5Academic Journal
المؤلفون: Menuchin-Lasowski, Y. (Yotam), Oren-Giladi, P. (Pazit), Xie, Q. (Qing), Ezra-Elia, R. (Raaya), Ofri, R. (Ron), Peled-Hajaj, S. (Shany), Farhy, C. (Chen), Higashi, Y. (Yujiro), Putte, T. (Tom) van de, Kondoh, H. (H.), Huylebroeck, D. (Danny), Cvekl, A. (Ales), Ashery-Padan, R. (Ruth)
المصدر: Development (Cambridge) vol. 143 no. 15, pp. 2829-2841
مصطلحات موضوعية: Differentiation, Neurogenesis, Progenitor, Retina, Retinogenesis, Sip1, Zeb2, Zfhx1b
Relation: http://repub.eur.nl/pub/96234; urn:hdl:1765/96234
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6Academic Journal
المؤلفون: Ratbi, Ilham, Elalaoui, Chafai Siham, Dastot-Le Moal, Florence, Goossens, Michel, Giurgea, Irina, Sefiani, Abdelaziz, Elalaoui, Chafaisiham
المساهمون: Department of Medical Genetics Rabat, Morocco, Institut National d’Hygiène Rabat, Morocco, Institut Mondor de Recherche Biomédicale (IMRB), Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12)
المصدر: ISSN: 0971-6866 ; Indian Journal of Human Genetics ; https://inserm.hal.science/inserm-04136296 ; Indian Journal of Human Genetics, 2007, 13 (3), pp.122. ⟨10.4103/0971-6866.38988⟩.
مصطلحات موضوعية: Dysmorphia Mowat-Wilson syndrome severe mental retardation ZFHX1B gene, Dysmorphia, Mowat-Wilson syndrome, severe mental retardation, ZFHX1B gene, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics
Relation: info:eu-repo/semantics/altIdentifier/pmid/21957361; PUBMED: 21957361; PUBMEDCENTRAL: PMC3168139
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7
المؤلفون: McKinsey, Gabriel Lawrence
مصطلحات موضوعية: Neurosciences, Developmental biology, Molecular biology, Cortical Interneuron, Mowat-Wilson Syndrome, Transcription Factor, Zfhx1b
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/1kb1k0rj
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8Academic Journal
المؤلفون: Stanchina, Laure, van de Putte, Tom, Goossens, Michel, Huylebroeck, Danny, Bondurand, Nadège
المساهمون: Institut Mondor de Recherche Biomédicale (IMRB), Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Laboratory of Molecular Biology (CELGEN), Catholic University of Leuven = Katholieke Universiteit Leuven (KU Leuven), Department of Molecular and Developmental Genetics (VIB11), Flanders institute of biotechnology
المصدر: ISSN: 0012-1606.
مصطلحات موضوعية: Zfhx1b, Differentiation, Enteric nervous system, Hirschsprung, Mowat-Wilson, Neural crest, Sox10, Transcription factor, Waardenburg, Zeb2, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology
Relation: info:eu-repo/semantics/altIdentifier/pmid/20206619; PUBMED: 20206619
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9Academic Journal
المؤلفون: Jiang, Qian, Zhang, Tao, Wang, Shuo, Xiao, Ping, Zhang, Zhen, Ma, Yinan, Cheng, Wei, Su, Lin, Pan, Hong, Li, Qi, Li, Long
المساهمون: Li, Q, Li, L (reprint author), Capital Inst Pediat, Dept Pediat Surg, 2 Yabao Rd, Beijing 100020, Peoples R China., Capital Inst Pediat, Dept Med Genet, Beijing Municipal Key Lab Child Dev & Nutri, Beijing, Peoples R China., Shanghai Jiao Tong Univ, Kowloon Hosp, Suzhou, Peoples R China., Beijing Mil Reg Gen Hosp, Bayi Childrens Hosp, Dept Nephrol & Rheumatol, Beijing, Peoples R China., Affiliated Childrens Hosp, Capital Inst Pediat, Dept Pathol, Beijing, Peoples R China., Capital Inst Pediat, Dept Pediat Surg, 2 Yabao Rd, Beijing 100020, Peoples R China., Peking Univ, Hosp 1, Dept Cent Lab, Beijing 100871, Peoples R China., Beijing United Family Hosp, Dept Surg, Beijing, Peoples R China., Monash Univ, Fac Med Nursing & Hlth Sci, Dept Paediat & Surg, Clayton, Vic 3800, Australia., Anhui Med Univ, Clin Coll PLA Affiliated, Reproduct Med Ctr, Hefei, Peoples R China.
المصدر: SCI
مصطلحات موضوعية: Mowat-Wilson syndrome, targeted exome sequencing, ZEB2 gene, nonsense mutation, Chinese, SMAD-INTERACTING PROTEIN-1, SHORT READ ALIGNMENT, HIRSCHSPRUNG-DISEASE, SEQUENCING DATA, MENTAL-RETARDATION, MUTATIONS, SIBLINGS, ZFHX1B, GENE, ZEB2
Relation: INTERNATIONAL JOURNAL OF CLINICAL AND EXPERIMENTAL PATHOLOGY.2016,9,(2),1195-+.; 1399054; http://hdl.handle.net/20.500.11897/438903; WOS:000371809200075
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10
المصدر: The Kobe journal of the medical sciences. 53(4):157-162
مصطلحات موضوعية: ZFHX1B, nonsense mutation, SIP1, Mowat-Wilson syndrome
وصف الملف: application/pdf
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11
المؤلفون: Jessica Vanhomwegen, Danny Huylebroeck, Sadia Kricha, Griet Verstappen, Jacob Souopgui, Emmanuelle Moens, Eric Bellefroid, Vincent Taelman, Christine Michiels, Leonardus Van Grunsven, Massimo Nichane, Karin Opdecamp
المساهمون: Liver Cell Biology, Cell Biology and Histology
المصدر: Vrije Universiteit Brussel
مصطلحات موضوعية: Xenopus, Sox2, Repressor, BMP4, Bone Morphogenetic Protein 4, Xenopus Proteins, Biology, Bone morphogenetic protein, Nervous System, Zfhx1b, Neural induction, SOX2, Ectoderm, Animals, CtBP, Promoter Regions, Genetic, Molecular Biology, Transcription factor, Psychological repression, ZEB2, Homeodomain Proteins, Regulation of gene expression, Gene Expression Regulation, Developmental, Cell Biology, biology.organism_classification, Molecular biology, Protein Structure, Tertiary, Cell biology, DNA-Binding Proteins, Repressor Proteins, Alcohol Oxidoreductases, Bone Morphogenetic Proteins, Sip1, Epidermis, Neural development, Developmental Biology
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12
المؤلفون: Tom Van de Putte, Annick Francis, Danny Huylebroeck, Leonardus Van Grunsven, Lucien Nelles
المساهمون: Liver Cell Biology, Cell Biology and Histology
المصدر: Vrije Universiteit Brussel
مصطلحات موضوعية: Male, Sympathetic Nervous System, Mowat–Wilson syndrome, Mowat-Wilson Syndrome, Wnt1 Protein, Biology, medicine.disease_cause, Zfhx1b, Craniofacial Abnormalities, Mice, Neural crest, Ganglia, Sensory, Genetics, medicine, Animals, Abnormalities, Multiple, Craniofacial, Molecular Biology, Genetics (clinical), Zinc Finger E-box Binding Homeobox 2, Homeodomain Proteins, Mice, Knockout, Regulation of gene expression, Neurocristopathy, Mutation, Skull, Genetic disorder, Gene Expression Regulation, Developmental, Heterozygote advantage, Syndrome, General Medicine, medicine.disease, Gastrointestinal Tract, Repressor Proteins, Melanocytes, Female, Knock out mouse, Neuroscience, Gene Deletion
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13Academic Journal
المؤلفون: Jeub, M., Emrich, M., Pradier, B., Taha, O., Gailus-Durner, V., Fuchs, H., Hrabě de Angelis, M., Huylebroeck, D., Zimmer, A., Beck, H., Rácz, I.
المصدر: Pain 152, 2384-2398 (2011)
مصطلحات موضوعية: DRG neuron, Intrinsic excitability, Ion channel, Nociception, Pain, Zfhx1b
Relation: info:eu-repo/semantics/altIdentifier/pmid/21862221; info:eu-repo/semantics/altIdentifier/wos/undefined; info:eu-repo/semantics/altIdentifier/isbn/0304-3959; info:eu-repo/semantics/altIdenti; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=3762; urn:isbn:0304-3959; urn:issn:0304-3959; urn:issn:1872-6623
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14Dissertation/ Thesis
المؤلفون: Riedt, Tamara
المساهمون: Brossart, Peter, Kolanus, Waldemar
مصطلحات موضوعية: Hämatopoese, Stammzellen, Differenzierung, myeloproliferative Erkrankung, Zfhx1b, ddc:570
وصف الملف: application/pdf
Relation: info:eu-repo/semantics/altIdentifier/urn/urn:nbn:de:hbz:5n-37080; https://hdl.handle.net/20.500.11811/6146
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15Academic Journal
المؤلفون: Ratbi, Ilham, Elalaoui, ChafaiSiham, Dastot-Le, Moal Florence, Goossens, Michel, Giurgea, Irina, Sefiani, Abdelaziz
مصطلحات موضوعية: ZFHX1B gene, severe mental retardation, Mowat-Wilson syndrome, Dysmorphia
Relation: http://www.bioline.org.br/abstract?id=hg07028; http://www.bioline.org.br/hg; http://www.ijhg.com/; http://hdl.handle.net/1807/49848
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16
المساهمون: Guellaen, Georges, Institut Mondor de Recherche Biomédicale (IMRB), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12)-IFR10, Laboratory of Molecular Biology (CELGEN), Catholic University of Leuven - Katholieke Universiteit Leuven (KU Leuven), Department of Molecular and Developmental Genetics (VIB11), Flanders institute of biotechnology
المصدر: Developmental Biology
Developmental Biology, Elsevier, 2010, 341 (2), pp.416-28. ⟨10.1016/j.ydbio.2010.02.036⟩مصطلحات موضوعية: Mowat-Wilson, medicine.disease_cause, SOXE Transcription Factors, Zfhx1b, Mice, Neural crest, 0302 clinical medicine, Zeb2, Genetics, Mice, Knockout, 0303 health sciences, Mutation, Mice, Inbred C3H, Stem Cells, Gene Expression Regulation, Developmental, Hirschsprung, Phenotype, medicine.anatomical_structure, Differentiation, embryonic structures, Neuroglia, Enteric nervous system, SOX10, Sox10, Waardenburg, Biology, 03 medical and health sciences, medicine, [SDV.BBM] Life Sciences [q-bio]/Biochemistry, Molecular Biology, Animals, Humans, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, Hirschsprung Disease, Molecular Biology, Transcription factor, Crosses, Genetic, 030304 developmental biology, Zinc Finger E-box Binding Homeobox 2, Homeodomain Proteins, Cell Biology, Embryo, Mammalian, Repressor Proteins, 030217 neurology & neurosurgery, Mowat–Wilson, Developmental Biology
وصف الملف: application/pdf
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17
المؤلفون: Sasso, Antun, Paučić-Kirinčić, Ela, Kamber-Makek, Silvija, Sindičić, Nada, Brajnović-Zaputović, Sanja, Brajenović-Milić, Bojana
مصطلحات موضوعية: Mowat– Wilson syndrome - Congenital syndrome - Hirschsprung disease - Seizures - Mental retardation - ZFHX1B gene
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18Academic Journal
المؤلفون: Zweier, Christiane, Thiel, Christian T., Dufke, Andreas, Crow, Yanick J., Meinecke, Peter, Suri, Mohnish, Ala-Mello, Sirpa, Beemer, Frits, Bernasconi, Sergio, Bianchi, Paolo, Bier, Andrea, Devriendt, Koen, Dimitrov, Boyan, Firth, Helen, Gallagher, Renata C., Garavelli, Livia, Gillessen-Kaesbach, Gabriele, Hudgins, Louanne, Kääriäinen, Helena, Karstens, Susan, Krantz, Ian, Mannhardt, Anca, Medne, Livija, Mücke, Jürgen, Kibaek, Maria, Krogh, Lotte Nylandsted, Peippo, Maarit, Rittinger, Olaf, Schulz, Solveig, Schelley, Susan L., Temple, I. Karen, Dennis, Nick R., Van Der Knaap, Marjo S., Wheeler, Patricia, Yerushalmi, Baruch, Zenker, Martin, Seidel, Heide, Lachmeijer, A., Prescott, Trine, Kraus, Cornelia, Lowry, R. Brian, Rauch, Anita
المصدر: Zweier , C , Thiel , C T , Dufke , A , Crow , Y J , Meinecke , P , Suri , M , Ala-Mello , S , Beemer , F , Bernasconi , S , Bianchi , P , Bier , A , Devriendt , K , Dimitrov , B , Firth , H , Gallagher , R C , Garavelli , L , Gillessen-Kaesbach , G , Hudgins , L , Kääriäinen , H , Karstens , S , Krantz , I , Mannhardt , A , Medne , L , Mücke , J , ....
مصطلحات موضوعية: Corpus callosum, HSCR, Hypospadias, Mental retardation, Microphthalmia, Mowat-Wilson, Parental mosaicism, ZFHX1B
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19Academic Journal
المؤلفون: Zweier, C, Thiel, CT, Dufke, A, Crow, YJ, Meinecke, P, Suri, M, Ala-Mello, S, Beemer, F, Bernasconi, S, Bianchi, P, Bier, A, Devriendt, Koenraad, Dimitrov, Boyan, Firth, H, Gallagher, RC, Garavelli, L, Gillessen-Kaesbach, G, Hudgins, L, Kaariainen, H, Karstens, S, Krantz, I, Mannhardt, A, Medne, L, Mucke, J, Kibaek, M, Krogh, LN, Peippo, M, Rittinger, O, Schulz, S, Schelley, SL, Temple, IK, Dennis, NR, Van der Knaap, MS, Wheeler, P, Yerushalmi, B, Zenker, M, Seidel, H, Lachmeijer, A, Prescott, T, Kraus, C, Lowry, RB, Rauch, A
مصطلحات موضوعية: zfhx1b, mowat-wilson, parental mosaicism, microphthalmia, hscr, corpus callosum, hypospadias, mental retardation, smad-interacting protein-1, characteristic facial features, mental retardation syndrome, box 1b gene, hirschsprung-disease, deletions, sip1, delineation, expression
Relation: European Journal of Medical Genetics vol:48 issue:2 pages:97-111; https://lirias.kuleuven.be/handle/123456789/218939; http://gateway.isiknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ScienceDirect&SrcApp=PRODUCT_NAME&KeyAID=S176972120500008X&DestApp=ScienceDirect&SrcAppSID=APP_SID&SrcJTitle=WURS_TITLE
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20
المؤلفون: Sanja Brajnović-Zaputović, Bojana Brajenović-Milić, Silvija Kamber-Makek, Ela Paučić-Kirinčić, Antun Sasso, Nada Sindičić
المصدر: Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery. 24(5)
مصطلحات موضوعية: Male, Mowat–Wilson syndrome, medicine.disease_cause, Exon, Congenital syndrome, Hirschsprung disease, Seizures, Mental retardation, ZFHX1B gene, Clinical report, Intellectual Disability, medicine, Humans, Abnormalities, Multiple, Child, Gene, Zinc Finger E-box Binding Homeobox 2, Genetics, Chromosome Aberrations, Homeodomain Proteins, Mutation, business.industry, Chromosome, General Medicine, Exons, medicine.disease, Repressor Proteins, Pediatrics, Perinatology and Child Health, Neurology (clinical), business, Novel mutation