نتائج البحث - "Paul A. Mulder"

1

Evaluation of an in vitro model with a novel statistical approach to measure differences in bacterial survival of extended-spectrum β-lactamase-producing Escherichia coli on an inanimate surface

المؤلفون: Veronica Weterings, Paul G.H. Mulder, Jan Kluytmans, Carlo Verhulst, Marjolein F. Q. Kluytmans-van den Bergh, Amanda Kleefman, Ina Willemsen, Jacobien Veenemans

المصدر: Antimicrobial Resistance and Infection Control, Vol 8, Iss 1, Pp 1-6 (2019)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6119e0754fc6a54ecf5d6b3c6e6e9957Test
http://link.springer.com/article/10.1186/s13756-019-0558-7Test

2

Diagnosis and management of Cornelia de Lange syndrome

المؤلفون: Chris Oliver, Anna Cereda, Julia O'Connor, Claudia Rigamonti, Ingrid D. C. van Balkom, Whitney Guthrie, David R. FitzPatrick, Paul A. Mulder, Angell Shi, Sylvia A. Huisman, Stacey L. Ishman, Matthew A. Deardorff, Lynne M. Kerr, Sigrid Piening, Joseph P. McCleery, Valérie Cormier-Daire, Peter M. Gillett, David Axtell, Antonella Costantino, Egbert J.W. Redeker, Carol J. Potter, Alex V. Levin, Angelo Selicorni, Raoul C.M. Hennekam, Natalie Blagowidow, Marco A. Grados, Mary Levis, Feliciano J. Ramos, Frank J. Kaiser, Zeynep Tümer, Joanna Moss, Juan Pié, Gerritjan Koekkoek, Laura Groves, Milena Mariani, Paola Francesca Ajmone, Amy Metrena, Ana L. Quaglio, Anne Marie Bisgaard, Leonie A. Menke, Jolanta Wierzba, Antonie D. Kline, David M. Richman

المصدر: Kline, A D, Moss, J F, Selicorni, A, Bisgaard, A-M, Deardorff, M A, Gillett, P M, Ishman, S L, Kerr, L M, Levin, A V, Mulder, P A, Ramos, F J, Wierzba, J, Ajmone, P F, Axtell, D, Blagowidow, N, Cereda, A, Costantino, A, Cormier-Daire, V, FitzPatrick, D, Grados, M, Groves, L, Guthrie, W, Huisman, S, Kaiser, F J, Koekkoek, G, Levis, M, Mariani, M, McCleery, J P, Menke, L A, Metrena, A, O'Connor, J, Oliver, C, Pie, J, Piening, S, Potter, C J, Quaglio, A L, Redeker, E, Richman, D, Rigamonti, C, Shi, A, Tumer, Z, Van Balkom, I D C & Hennekam, R C 2018, ' Diagnosis and management of Cornelia de Lange syndrome : first international consensus statement ', Nature Reviews Genetics, vol. 19, no. 10, pp. 649-666 . https://doi.org/10.1038/s41576-018-0031-0Test
Nature Reviews. Genetics
Kline, A D, Moss, J F, Selicorni, A, Bisgaard, A-M, Deardorff, M A, Gillett, P M, Ishman, S L, Kerr, L M, Levin, A V, Mulder, P A, Ramos, F J, Wierzba, J, Ajmone, P F, Axtell, D, Blagowidow, N, Cereda, A, Costantino, A, Cormier-Daire, V, FitzPatrick, D, Grados, M, Groves, L, Guthrie, W, Huisman, S, Kaiser, F J, Koekkoek, G, Levis, M, Mariani, M, McCleery, J P, Menke, L A, Metrena, A, O'Connor, J, Oliver, C, Pie, J, Piening, S, Potter, C J, Quaglio, A L, Redeker, E, Richman, D, Rigamonti, C, Shi, A, Tümer, Z, Van Balkom, I D C & Hennekam, R C 2018, ' Diagnosis and management of Cornelia de Lange syndrome : first international consensus statement ', Nature Reviews. Genetics, vol. 19, pp. 649-666 . https://doi.org/10.1038/s41576-018-0031-0Test

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Consensus, Genetic testing, Cornelia de Lange Syndrome, Genetic syndromes, Cohesin complex, Statement (logic), BRACHMANN-DELANGE-SYNDROME, Signs and symptoms, Biology, 03 medical and health sciences, De Lange Syndrome, Intellectual disability, Genetics, medicine, Humans, Clinical genetics, Psychiatry, Molecular Biology, Genetic Association Studies, Genetics (clinical), GENOTYPE-PHENOTYPE CORRELATIONS, Genetic counselling, Disease genetics, AUTISM SPECTRUM DISORDER, Medical genetics, Consensus Statement, SELF-INJURIOUS-BEHAVIOR, High-Throughput Nucleotide Sequencing, Molecular diagnostics, medicine.disease, CONGENITAL DIAPHRAGMATIC-HERNIA, 030104 developmental biology, DU-CHAT-SYNDROMES, OF-THE-LITERATURE, AUTOSOMAL-DOMINANT INHERITANCE, Mutation, Marked heterogeneity, RUBINSTEIN-TAYBI SYNDROMES, TO-MALE TRANSMISSION

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0818aeb6ab78c437f75857d687f3a286Test
https://doi.org/10.1038/s41576-018-0031-0Test

3

Delineation of phenotypes and genotypes related to cohesin structural protein RAD21

المساهمون: Ministerio de Ciencia, Innovación y Universidades (España), Paediatric Genetics, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Human Genetics, General Paediatrics, Amsterdam Reproduction & Development (AR&D), Graduate School, APH - Quality of Care

المصدر: Krab, L C, Marcos-Alcalde, I, Assaf, M, Balasubramanian, M, Andersen, J B, Bisgaard, A M, Fitzpatrick, D R, Gudmundsson, S, Huisman, S A, Kalayci, T, Maas, S M, Martinez, F, McKee, S, Menke, L A, Mulder, P A, Murch, O D, Parker, M, Pie, J, Ramos, F J, Rieubland, C, Rosenfeld Mokry, J A, Scarano, E, Shinawi, M, Gómez-Puertas, P, Tümer, Z & Hennekam, R C 2020, ' Delineation of phenotypes and genotypes related to cohesin structural protein RAD21 ', Human Genetics, vol. 139, pp. 575-592 . https://doi.org/10.1007/s00439-020-02138-2Test
Zaguán. Repositorio Digital de la Universidad de Zaragoza
instname
DDFV: Repositorio Institucional de la Universidad Francisco de Vitoria
Universidad Francisco de Vitoria
Human Genetics
Digital.CSIC. Repositorio Institucional del CSIC
DDFV. Repositorio Institucional de la Universidad Francisco de Vitoria
Human genetics, 139(5), 575-592. Springer Verlag
HUMAN GENETICS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe

مصطلحات موضوعية: Male, Mungan syndrome, Genotype-phenotype correlation, Protein Conformation, 8Q24, Cell Cycle Proteins, NIPBL, 0302 clinical medicine, Holoprosencephaly, De Lange Syndrome, Genotype, Child, Genetics (clinical), Original Investigation, Genetics, 0303 health sciences, Middle Aged, Phenotype, DNA-Binding Proteins, DE-LANGE-SYNDROME, CORNELIA, Child, Preschool, Female, Chromosome Deletion, Medical Genetics, Adult, Cornelia de Lange Syndrome, Adolescent, Cohesin complex, ORGANIZATION, Molecular Dynamics Simulation, SMC1A, Biology, PATIENT, Young Adult, 03 medical and health sciences, Cohesinopathy, medicine, Humans, RAD21, Genetic Association Studies, Medicinsk genetik, 030304 developmental biology, IDENTIFICATION, Cohesin, MUTATIONS, Infant, Newborn, Infant, medicine.disease, GENE, Cornelia de Lange syndrome, GIEDION, Mutation, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1a46ea7b3f05f0c29790795166cec305Test
http://hdl.handle.net/10261/235732Test

4

Development, behaviour and sensory processing in Marshall-Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes

المؤلفون: Inge B. Mathijssen, Claire G. Salter, J M van Hagen, Tara Montgomery, Manuela Priolo, T. E. Neumann, Charles Shaw-Smith, I. H. Acero, Raoul C.M. Hennekam, L. Pintomalli, Fernando Santos-Simarro, Christine Coubes, Maria Iascone, Leonie A. Menke, Nursel Elcioglu, M. Zollino, Ghayda M. Mirzaa, Shane McKee, Rajesh V. Thakker, S. Piening, I. Dapia, C. Mammì, Arveen Kamath, Jair Tenorio, Emilia K. Bijlsma, Pierre Sarda, W. W. Dunn, Denny Schanze, Paul A. Mulder, Pablo Lapunzina, Martin Zenker, A. van Haeringen, Laura Bernardini, Jan Liebelt, N. Di Donato, Dorothee Neubauer, Jill A. Fahrner, Alison Foster, Sally Ann Lynch, Sue Price, A. M. Landlust, Sally J. Davies, N. G. González, I. Huber, Rita Valdez, I. D. C. van Balkom, Maria Antonietta Pisanti, Saskia M. Maas, Sarah F. Smithson, Pedro Arias, Mohnish Suri, Mabel Segovia, Kreepa Kooblall, Katrina Tatton-Brown, Trevor Cole, A. S. Plomp, Ann Sophie Kaiser, Fowzan S. Alkuraya

المساهمون: Pediatric surgery, Human genetics, APH - Quality of Care, Amsterdam Reproduction & Development (AR&D), Mulder, P. A., van Balkom, I. D. C., Landlust, A. M., Priolo, M., Menke, L. A., Acero, I. H., Alkuraya, F. S., Arias, P., Bernardini, L., Bijlsma, E. K., Cole, T., Coubes, C., Dapia, I., Davies, S., Di Donato, N., Elcioglu, N. H., Fahrner, J. A., Foster, A., Gonzalez, N. G., Huber, I., Iascone, M., Kaiser, A. -S., Kamath, A., Kooblall, K., Lapunzina, P., Liebelt, J., Lynch, S. A., Maas, S. M., Mammi, C., Mathijssen, I. B., McKee, S., Mirzaa, G. M., Montgomery, T., Neubauer, D., Neumann, T. E., Pintomalli, L., Pisanti, M. A., Plomp, A. S., Price, S., Salter, C., Santos-Simarro, F., Sarda, P., Schanze, D., Segovia, M., Shaw-Smith, C., Smithson, S., Suri, M., Tatton-Brown, K., Tenorio, J., Thakker, R. V., Valdez, R. M., Van Haeringen, A., Van Hagen, J. M., Zenker, M., Zollino, M., Dunn, W. W., Piening, S., Hennekam, R. C., Graduate School, ANS - Cellular & Molecular Mechanisms, General Paediatrics, ARD - Amsterdam Reproduction and Development, Human Genetics

المصدر: J Intellect Disabil Res
Mulder, P A, van Balkom, I D C, Landlust, A M, Priolo, M, Menke, L A, Acero, I H, Alkuraya, F S, Arias, P, Bernardini, L, Bijlsma, E K, Cole, T, Coubes, C, Dapia, I, Davies, S, di Donato, N, Elcioglu, N H, Fahrner, J A, Foster, A, González, N G, Huber, I, Iascone, M, Kaiser, A S, Kamath, A, Kooblall, K, Lapunzina, P, Liebelt, J, Lynch, S A, Maas, S M, Mammì, C, Mathijssen, I B, McKee, S, Mirzaa, G M, Montgomery, T, Neubauer, D, Neumann, T E, Pintomalli, L, Pisanti, M A, Plomp, A S, Price, S, Salter, C, Santos-Simarro, F, Sarda, P, Schanze, D, Segovia, M, Shaw-Smith, C, Smithson, S, Suri, M, Tatton-Brown, K, Tenorio, J, Thakker, R V, Valdez, R M, van Haeringen, A, van Hagen, J M, Zenker, M, Zollino, M, Dunn, W W, Piening, S & Hennekam, R C 2020, ' Development, behaviour and sensory processing in Marshall–Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes ', Journal of Intellectual Disability Research, vol. 64, no. 12, pp. 956-969 . https://doi.org/10.1111/jir.12787Test
Journal of Intellectual Disability Research, 64(12), 956-969. Wiley-Blackwell
Journal of Intellectual Disability Research, 64(12), 956-969. WILEY
Journal of intellectual disability research, 64(12), 956-969. Wiley-Blackwell

مصطلحات موضوعية: cognition, Male, 030506 rehabilitation, Marshall–Smith syndrome, medicine.medical_treatment, CHILDREN, Comorbidity, Settore MED/03 - GENETICA MEDICA, Craniofacial Abnormalities, Quality of life, Septo-Optic Dysplasia, Intellectual disability, Adaptation, Psychological, sensory processing, Child, Netherlands, biology, Mental Disorders, 05 social sciences, Rehabilitation, Cognition, SOTOS-LIKE, Syndrome, NFIX, Psychiatry and Mental health, Phenotype, Neurology, adaptive behaviour, Child, Preschool, NFIX variants, Female, 0305 other medical science, Psychology, 050104 developmental & child psychology, Clinical psychology, Adult, Sensory processing, Adolescent, Challenging behaviour, NFIXvariants, Context (language use), AUTISTIC DISORDER, Speech Disorders, Article, 03 medical and health sciences, Young Adult, Arts and Humanities (miscellaneous), Intellectual Disability, medicine, Humans, 0501 psychology and cognitive sciences, Abnormalities, Multiple, Malan syndrome, Bone Diseases, Developmental, ADULTS, medicine.disease, Marshall-Smith syndrome, Cross-Sectional Studies, biology.protein, PATTERNS, Neurology (clinical), Follow-Up Studies

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5de6be3c9250c5a8b430e944ce44d898Test
https://pubmed.ncbi.nlm.nih.gov/33034087Test

5

Further delineation of Malan syndrome

المؤلفون: Ann Sophie Kaiser, Fowzan S. Alkuraya, Trevor Cole, Paul A. Mulder, Pablo Lapunzina, Inge B. Mathijssen, Jan Liebelt, Claire G. Salter, Pierre Sarda, Jill A. Fahrner, Manuela Priolo, Dorothee Neubauer, Nursel Elcioglu, Denny Schanze, Katrin Tatton-Brown, Sarah F. Smithson, Jair Tenorio, Thomas E. Neumann, Charles Shaw-Smith, Letizia Pintomalli, Shane McKee, Emilia K. Bijlsma, Sally J. Davies, Sue Price, Rajesh V. Thakker, Noelia García González, Rita Valdez, Sally Ann Lynch, Nataliya Di Donato, Arie van Haeringen, Astrid S. Plomp, Inés Hernández Acero, Ilka Huber, Marcela Zollino, Laura Bernardini, Raoul C.M. Hennekam, Martin Zenker, Mohnish Suri, Mabel Segovia, Johanna M. van Hagen, Ghayda Mirzaa, Leonie A. Menke, Kreepa Kooblall, Arveen Kamath, Christine Coubes, I. Dapia, Corrado Mammì, Alison Foster, Tara Montgomery, Pedro Arias, Fernando Santos-Simarro, Maria Iascone, Maria Antonietta Pisanti, Saskia M. Maas

المساهمون: ANS - Cellular & Molecular Mechanisms, Graduate School, ARD - Amsterdam Reproduction and Development, Human Genetics, Paediatric Genetics, General Paediatrics, APH - Quality of Care, Amsterdam Reproduction & Development (AR&D), Human genetics, Pediatric surgery

المصدر: Human Mutation
Human mutation, 39(9), 1226-1237. Wiley-Liss Inc.
Human Mutation, 39(9), 1226-1237
Priolo, M, Schanze, D, Tatton-Brown, K, Mulder, P A, Tenorio, J, Kooblall, K, Acero, I H, Alkuraya, F S, Arias, P, Bernardini, L, Bijlsma, E K, Cole, T, Coubes, C, Dapia, I, Davies, S, Di Donato, N, Elcioglu, N H, Fahrner, J A, Foster, A, González, N G, Huber, I, Iascone, M, Kaiser, A S, Kamath, A, Liebelt, J, Lynch, S A, Maas, S M, Mammì, C, Mathijssen, I B, McKee, S, Menke, L A, Mirzaa, G M, Montgomery, T, Neubauer, D, Neumann, T E, Pintomalli, L, Pisanti, M A, Plomp, A S, Price, S, Salter, C, Santos-Simarro, F, Sarda, P, Segovia, M, Shaw-Smith, C, Smithson, S, Suri, M, Valdez, R M, Van Haeringen, A, Van Hagen, J M, Zollino, M, Lapunzina, P, Thakker, R V, Zenker, M & Hennekam, R C 2018, ' Further delineation of Malan syndrome ', Human Mutation, vol. 39, no. 9, pp. 1226-1237 . https://doi.org/10.1002/humu.23563Test
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Priolo, M, Schanze, D, Tatton-Brown, K, Mulder, P A, Tenorio, J, Kooblall, K, Acero, I H, Alkuraya, F S, Arias, P, Bernardini, L, Bijlsma, E K, Cole, T, Coubes, C, Dapia, I, Davies, S, di Donato, N, Elcioglu, N H, Fahrner, J A, Foster, A, González, N G, Huber, I, Iascone, M, Kaiser, A-S, Kamath, A, Liebelt, J, Lynch, S A, Maas, S M, Mammì, C, Mathijssen, I B, McKee, S, Menke, L A, Mirzaa, G M, Montgomery, T, Neubauer, D, Neumann, T E, Pintomalli, L, Pisanti, M A, Plomp, A S, Price, S, Salter, C, Santos-Simarro, F, Sarda, P, Segovia, M, Shaw-Smith, C, Smithson, S, Suri, M, Valdez, R M, van Haeringen, A, van Hagen, J M, Zollino, M, Lapunzina, P, Thakker, R V, Zenker, M & Hennekam, R C 2018, ' Further delineation of Malan syndrome ', Human Mutation, vol. 39, no. 9, pp. 1226-1237 . https://doi.org/10.1002/humu.23563Test
Human Mutation, 39(9), 1226-1237. Wiley-Liss Inc.

مصطلحات موضوعية: 0301 basic medicine, Male, Pediatrics, Developmental Disabilities, phenotype-genotype, Craniofacial Abnormalities, Epilepsy, Marshall–Smith syndrome, Septo-Optic Dysplasia, Intellectual disability, Child, Genetics (clinical), Research Articles, biology, Sotos syndrome, Exons, NFIX, Child, Preschool, Female, medicine.symptom, Chromosome Deletion, Hand Deformities, Congenital, Research Article, Adult, medicine.medical_specialty, Prominent forehead, phenotype‐genotype, Adolescent, phenotype, Mutation, Missense, 03 medical and health sciences, Young Adult, Intellectual Disability, Genetics, medicine, Congenital Hypothyroidism, Humans, Abnormalities, Multiple, Malan syndrome, Weaver syndrome, Bone Diseases, Developmental, Macrocephaly, medicine.disease, Marshall-Smith syndrome, Megalencephaly, NFI Transcription Factors, 030104 developmental biology, Marshall‐Smith syndrome, biology.protein

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e8c7db7dc828e88348f7ed242503f89Test
http://europepmc.org/articles/PMC6175110Test

6

Does robotic rectal cancer surgery improve the results of experienced laparoscopic surgeons? An observational single institution study comparing 168 robotic assisted with 184 laparoscopic rectal resections

المؤلفون: George P van der Schelling, Paul G Mulder, Rogier M. P. H. Crolla

المصدر: Surgical Endoscopy. 32:4562-4570

مصطلحات موضوعية: Male, Laparoscopic surgery, medicine.medical_specialty, Colorectal cancer, medicine.medical_treatment, Operative Time, Logistic regression, 03 medical and health sciences, Postoperative Complications, 0302 clinical medicine, Robotic Surgical Procedures, Outcome Assessment, Health Care, Humans, Medicine, Robotic surgery, Aged, Netherlands, Surgeons, Proctectomy, Rectal Neoplasms, business.industry, General surgery, Professional Practice, Odds ratio, Perioperative, Middle Aged, medicine.disease, Neoadjuvant Therapy, 030220 oncology & carcinogenesis, Female, Laparoscopy, 030211 gastroenterology & hepatology, Surgery, Observational study, Clinical Competence, business, Abdominal surgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cf55a70596e0c7436f3fe809e907822cTest
https://doi.org/10.1007/s00464-018-6209-xTest

7

دورية أكاديمية

LETTER TO THE EDITOR Response to: The effect of a preoperative

المؤلفون: Ernesto Bali, Eric J. Feron, Marc Veckeneer, Paul G. Mulder, Jan C. Van Meurs, P. G. Mulder

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: ftp://ftp.ncbi.nlm.nih.gov/pub/pmc/10/e2/Graefes_Arch_Clin_Exp_Ophthalmol_2011_Jan_25_249(1)_153.tar.gz

وصف الملف: application/zip

العلاقة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.293.8881Test

8

Behaviour in Cornelia de Lange syndrome: a systematic review

المؤلفون: Raoul C.M. Hennekam, Sigrid Piening, Ingrid D. C. van Balkom, Paul A. Mulder, Sylvia A. Huisman, Chris Oliver

المصدر: Developmental medicine and child neurology. 59(4):361-366

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b3b6a16fa6dfc0f0c4cf0a11b6d57423Test
https://doi.org/10.1111/dmcn.13361Test

9

Press-fit bipolar radial head arthroplasty, midterm results

المؤلفون: Izaäk F. Kodde, Paul G.H. Mulder, Denise Eygendaal, C. Niek van Dijk, Laurens Kaas, Andras Heijink

المساهمون: Other departments, Orthopedic Surgery and Sports Medicine

المصدر: Journal of shoulder and elbow surgery / American Shoulder and Elbow Surgeons ... [et al.], 25(8), 1235-1242. Mosby Inc.

مصطلحات موضوعية: Adult, Male, Reoperation, medicine.medical_specialty, medicine.medical_treatment, Elbow, Elbow Prosthesis, Prosthesis Design, Radial head prosthesis, Prosthesis, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Radial head arthroplasty, Humans, Medicine, Orthopedics and Sports Medicine, Revision rate, Range of Motion, Articular, Fractures, Comminuted, Reduction (orthopedic surgery), Aged, Retrospective Studies, 030222 orthopedics, business.industry, Arthroplasty, Replacement, Elbow, 030229 sport sciences, General Medicine, Middle Aged, Midterm outcome, Surgery, Treatment Outcome, medicine.anatomical_structure, Head (vessel), Female, Radius Fractures, business, Follow-Up Studies

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b0cc9f8f9ac9404d95570c5a6ef56b7aTest
https://doi.org/10.1016/j.jse.2016.02.007Test

10

Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement

المساهمون: Orthopedics and Sports Medicine, Fondazione Policlinico Universitario A. Gemelli [Rome] (FPUAG), Università cattolica del Sacro Cuore = Catholic University of the Sacred Heart [Roma] (Unicatt), Friedrich-Alexander Universität Erlangen-Nürnberg (FAU), Lentis Psychiatric Institute [Groningen, The Netherlands] (LPI), University Medical Center Groningen [Groningen] (UMCG), Massachusetts General Hospital [Boston, MA, USA], Harvard Medical School [Boston] (HMS), Baylor College of Medicine (BCM), Baylor University, Leiden University Medical Center (LUMC), University of Texas Health Science Center at San Antonio [San Antonio, Tx, USA], Maladies génétiques d'expression pédiatrique [CHU Trousseau] (Inserm U933), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), UF de Génétique moléculaire [CHU Trousseau], CHU Trousseau [APHP], Bambino Gesù Children’s Hospital [Rome, Italy], Wrocław Medical University, Dutch Pitt-Hopkins Syndrome Foundation [Oosterhout, The Netherlands] (DPHSF), University of Manchester [Manchester], Organisation for Individuals with Intellectual Disabilities [Zwolle, The Netherlands] (O2ID), Trajectum [Zwolle, The Netherlands], Radboud University [Nijmegen], Amsterdam UMC - Amsterdam University Medical Center, Eramus MC-Sophia Children’s Hospital, Partenaires INRAE, Università degli Studi di Siena = University of Siena (UNISI), Karolinska University Hospital [Stockholm], Pitt Hopkins UK [Ilford, UK] (PH), Children's Mercy Hospital [Kansas City], Couvet, Sandrine

المصدر: Clinical Genetics, 95, 4, pp. 462-478
Clinical Genetics, 95, 462-478
Clinical Genetics, 95(4), 462-478. WILEY
Clinical Genetics, 95(4), 462-478. Wiley-Blackwell Publishing Ltd
Clinical Genetics
Clinical Genetics, 2019, 95 (4), pp.462-478. ⟨10.1111/cge.13506⟩

مصطلحات موضوعية: 0301 basic medicine, Statement (logic), [SDV]Life Sciences [q-bio], autonomic dysfunction, Pitt–Hopkins syndrome, 030105 genetics & heredity, Settore MED/03 - GENETICA MEDICA, Health problems, HELIX TRANSCRIPTION FACTOR, Neurodevelopmental disorder, Transcription Factor 4, Intellectual disability, Diagnosis, Hyperventilation, guidelines, syndromic behavior, Genetics (clinical), Age Factors, Disease Management, PEDIATRIC GASTROENTEROLOGY, CLINICAL SCORE, Combined Modality Therapy, EUROPEAN-SOCIETY, [SDV] Life Sciences [q-bio], Phenotype, CENTRAL SLEEP-APNEA, FACTOR E2-2, Disease Susceptibility, medicine.medical_specialty, diagnostic criteria, molecular diagnostic pathway, Pitt-Hopkins syndrome, TCF4, Genetics, Learning and Plasticity, Diagnosis, Differential, Facies, Genetic Testing, Humans, Intellectual Disability, Mutation, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, 03 medical and health sciences, International literature, medicine, Psychiatry, business.industry, TCF4 GENE, DELETION, medicine.disease, 030104 developmental biology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Differential, business, MENTAL-RETARDATION

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3dd9d33ca99272aa8120db98571c744aTest
http://hdl.handle.net/11365/1126835Test

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