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1دورية أكاديمية
المصدر: American Journal of Perinatology Reports, Vol 12, Iss 03, Pp e139-e143 (2022)
مصطلحات موضوعية: congenital central hypoventilation syndrome, dilated oval pupil, mydriasis oval-shaped pupil, neonate, newborn onset, phox2b, Gynecology and obstetrics, RG1-991
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Rishika P. Sakaria, Parul G. Zaveri, Shannon Holtrop, Jie Zhang, Chester W. Brown, Eniko K. Pivnick
المصدر: Frontiers in Genetics, Vol 12 (2021)
مصطلحات موضوعية: KMT2D, kabuki syndrome (KS), holoprosencephaly (HPE), congenital anomalies, truncus, PAPVR, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2021.766316/fullTest; https://doaj.org/toc/1664-8021Test
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3دورية أكاديمية
المؤلفون: Rishika P. Sakaria, Roya Mostafavi, Stephen Miller, Jewell C. Ward, Eniko K. Pivnick, Ajay J. Talati
المصدر: American Journal of Perinatology Reports, Vol 11, Iss 02, Pp e65-e75 (2021)
مصطلحات موضوعية: paternal upd(14), coat-hanger ribs, 14q32.2, omphalocele, Gynecology and obstetrics, RG1-991
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Vicki M. Park, William F. Brescia, Satoru K. Nishimoto, Jewell C. Ward, Eniko K. Pivnick, Gary Nace, Russell W. Chesney
المصدر: MedEdPORTAL, Vol 8 (2012)
مصطلحات موضوعية: TBL, Team-Based Learning, X-Linked Recessive, Muscular Dystrophy, Duchenne, Autosomal Recessive, Medicine (General), R5-920, Education
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2374-8265Test
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المؤلفون: Stephen T. Miller, Jewell C. Ward, Roya Mostafavi, Eniko K. Pivnick, Ajay J. Talati, Rishika P. Sakaria
المصدر: AJP Reports
American Journal of Perinatology Reports, Vol 11, Iss 02, Pp e65-e75 (2021)مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Polyhydramnios, paternal UPD(14), viruses, 14q32.2, Case Report, KAGAMI-OGATA SYNDROME, Abdominal wall, coat-hanger ribs, medicine, Rib cage, Pregnancy, Omphalocele, omphalocele, Respiratory distress, business.industry, Obstetrics and Gynecology, Gynecology and obstetrics, biochemical phenomena, metabolism, and nutrition, medicine.disease, medicine.anatomical_structure, Pediatrics, Perinatology and Child Health, RG1-991, Skeletal abnormalities, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cc070a1bcd97ff1bad48facd8e51cf67Test
http://europepmc.org/articles/PMC8159623Test -
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المؤلفون: Eissa Faqeih, Jennifer Friedman, Hudson H. Freeze, Kierstin N Keller, Miao He, Earnest James Paul Daniel, Jie Chen, Hind Alsharhan, Eniko K. Pivnick, Christina Lam, Nicole Engelhardt, Amal Alhashem, Michael J. Bamshad, Deborah A. Nickerson, Pengfei Liu, Kimiyo Raymond, Pamela A Mazzeo, Jill A. Rosenfeld, Bobby G. Ng, Andrew C. Edmondson
المصدر: J Inherit Metab Dis
مصطلحات موضوعية: Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Glycan, Microcephaly, Adolescent, Genotype, Bioinformatics, Mannosyltransferases, Article, Young Adult, Epilepsy, Congenital Disorders of Glycosylation, Genetics, medicine, Humans, Endocrine system, Genetics (clinical), Immunodeficiency, biology, Neural tube defect, business.industry, Infant, Newborn, Neural tube, Infant, medicine.disease, Hypotonia, carbohydrates (lipids), Phenotype, medicine.anatomical_structure, Child, Preschool, biology.protein, Female, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a2ccc5c959676b58b2731f7c6d8e242Test
https://doi.org/10.1002/jimd.12367Test -
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المؤلفون: Roya Mostafavi, M. Mahdi Motazacker, Julie M. Gastier-Foster, Cheryl Garganta, Kristen V. Truxal, Eline Overwater, Mieke M. van Haelst, Eniko K. Pivnick, Laurence E. Walsh, Valerie J. Castelluccio, Elizabeth S. Barrie, Erin Crist, Tara Chandra Narumanchi, Asim F. Choudhri
المساهمون: Human genetics, Amsterdam Neuroscience - Complex Trait Genetics, Amsterdam Reproduction & Development (AR&D), Human Genetics, Graduate School, ACS - Heart failure & arrhythmias, ACS - Pulmonary hypertension & thrombosis
المصدر: American Journal of Medical Genetics, Part A, 182(5), 1201-1208. Wiley-Liss Inc.
Barrie, E S, Overwater, E, van Haelst, M M, Motazacker, M M, Truxal, K V, Crist, E, Mostafavi, R, Pivnick, E K, Choudhri, A F, Narumanchi, T C, Castelluccio, V, Walsh, L E, Garganta, C & Gastier-Foster, J M 2020, ' Expanding the spectrum of CEP55-associated disease to viable phenotypes ', American Journal of Medical Genetics, Part A, vol. 182, no. 5, pp. 1201-1208 . https://doi.org/10.1002/ajmg.a.61512Test
American journal of medical genetics. Part A, 182(5), 1201-1208. Wiley-Liss Inc.مصطلحات موضوعية: Genetics, Microcephaly, media_common.quotation_subject, Pachygyria, Nonsense, Lissencephaly, Biology, Hydranencephaly, medicine.disease, Compound heterozygosity, Meckel-like syndrome, medicine, Missense mutation, CEP55, Cerebellar hypoplasia, Genetics (clinical), MARCH syndrome, media_common
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9596be2a41e61179f4922f424f6ebc7bTest
https://doi.org/10.1002/ajmg.a.61512Test -
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المؤلفون: Giulio Piluso, Katharina Wimmer, Veronica Saletti, Eniko K. Pivnick, Geraldine Kelly-Mancuso, Karen W. Gripp, Cristin Griffis, Louanne Hudgins, Alessandro De Luca, Michael F. Wangler, M. Daniela D'Agostino, Marica Eoli, Cynthia M. Powell, Laura A. Baker, Mayra Martinez Ojeda, Silvia Esposito, Elizabeth A. Sellars, Kory Keller, David D. Weaver, James T. Bennett, Nicole J. Ullrich, Allison L. Goetsch, Donald Basel, Bruce R. Korf, Stephanie Fox, Katelyn Hodge, Laura Dosa, Robert S. Greenwood, Mario Bengala, Andrea M. Lewis, Ruth Sheffer, Valentina Pinna, Fanny Cortés, Dusica Babovic-Vuksanovic, Aaina Kochhar, Rosemarie Smith, Concepción Hernández-Chico, Elizabeth Siqveland, Robert Listernick, Lola K. Clarkson, Punita Gupta, E. Haan, Martin B. Delatycki, Amy Theos, Noa Ruhrman Shahar, Teresa Giugliano, Carey McDougall, Mitch Cunningham, David W. Stockton, Tom Callens, Maria Cristina Digilio, Yunjia Chen, Ludwine Messiaen, Eva Trevisson, Samantha A. Schrier Vergano, Caleb Rogers, Magdalena Koczkowska, Kathleen Claes, Christine Fauth, Jan Liebelt, Pamela Trapane, Eric Johns, John M. Slopis, Chelsea Chambers, Tamara L. Haygarth, Lesley K. McGregor, Alberto Spalice, Małgorzata J.M. Nowaczyk, Mary Ella M Pierpont, Kaleb Yohay, Alicia Gomes, Vickie Zurcher, Gail E. Tomlinson, Angie W. Lichty, Stephanie E Wallace, Rachel K. Hachen, Isabelle Maystadt, S. Lane Rutledge, Yael Goldberg, Grace Tran, Ulrich A. Schatz, Allison Schreiber, Jenneke van den Ende, Michael J. Lyons, Mary Louise Freckmann, Kim Armfield Uhas, Alesha D. Hicks, Maurizio Clementi, Haley Streff, June Ortenberg, John Pappas, Nancy J. Mendelsohn, Sandra Janssens, Karin Panzer, Yolanda Martin, Elaine H. Zackai, Sandra Giustini, Linlea Armstrong, Katherine A. Bosanko, Angela Sharp, Daryl A. Scott, Jonathan Zonana, Robert J. Hopkin, Eric Legius, Dinel A. Pond, Daniela Melis, Claudia Santoro, Sarah A. Sandaradura
المصدر: Human Mutation. 41:299-315
مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, 0303 health sciences, medicine.medical_specialty, education.field_of_study, Pulmonic stenosis, 030305 genetics & heredity, Population, Spinal neurofibromas, Biology, medicine.disease, Phenotype, Gastroenterology, nervous system diseases, 03 medical and health sciences, Internal medicine, Cohort, Genetics, medicine, Missense mutation, Noonan syndrome, Neurofibromatosis, education, Genetics (clinical), 030304 developmental biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::94e416d43f4f6e31d2ae02dd86a7d5e7Test
https://doi.org/10.1002/humu.23929Test -
9دورية أكاديمية
المؤلفون: Koczkowska M, Callens T, Yunjia Chen 1, Alicia Gomes 1, Alesha D Hicks 1, Angela Sharp 1, Eric Johns 1, Kim Armfield Uhas 2, Linlea Armstrong 3, Katherine Armstrong Bosanko 4, Dusica Babovic-Vuksanovic 5, Laura Baker 6, Donald G Basel 7, Mario Bengala 8, James T Bennett 9, Chelsea Chambers 10, Lola K Clarkson 11, Maurizio Clementi 12, Fanny M Cortés 13, Mitch Cunningham 14, M Daniela D'Agostino 15, Martin B Delatycki 16, Maria C Digilio 17, Laura Dosa 18, Silvia Esposito 19, Stephanie Fox 15, Mary-Louise Freckmann 20, Christine Fauth 21, Teresa Giugliano 22, Giustini S, Allison Goetsch 24, Yael Goldberg 25, Robert S Greenwood 26, Cristin Griffis 7, Karen W Gripp 6, Punita Gupta 27, Eric Haan 28, Rachel K Hachen 29, Tamara L Haygarth 30, Concepción Hernández-Chico 31, Katelyn Hodge 32, Robert J Hopkin 33, Louanne Hudgins 34, Sandra Janssens 35, Kory Keller 36, Geraldine Kelly-Mancuso 33, Aaina Kochhar 37, Bruce R Korf 1, Andrea M Lewis 38, Jan Liebelt 39, Angie Lichty 11, Robert H Listernick 24, Michael J Lyons 11, Isabelle Maystadt 40, Mayra Martinez Ojeda 41, Carey McDougall 42, Lesley K McGregor 39, Daniela Melis 43, Nancy Mendelsohn 44, Malgorzata J M Nowaczyk 45, June Ortenberg 15, Karin Panzer 46, John G Pappas 47, Mary Ella Pierpont 48, Giulio Piluso 22, Valentina Pinna 49, Eniko K Pivnick 50, Dinel A Pond 44, Cynthia M Powell 51, Caleb Rogers 36, Noa Ruhrman Shahar 25, S Lane Rutledge 1, Veronica Saletti 19, Sarah A Sandaradura 52, Claudia Santoro 53, Ulrich A Schatz 21, Allison Schreiber 54, Daryl A Scott 38, Elizabeth A Sellars 4, Ruth Sheffer 55, Elizabeth Siqveland 44, John M Slopis 56, Rosemarie Smith 57, Alberto Spalice 58, David W Stockton 14, Haley Streff 38, Amy Theos 59, Gail E Tomlinson 60, Grace Tran 61, Pamela L Trapane 62, Eva Trevisson 12, Nicole J Ullrich 63, Jenneke Van den Ende 64, Samantha A Schrier Vergano 65, Stephanie E Wallace 9, Michael F Wangler 38, David D Weaver 32, Kaleb H Yohay 66, Elaine Zackai 42, Jonathan Zonana 36, Vickie Zurcher 54, Kathleen B M Claes 35, Marica Eoli 67, Yolanda Martin 31, Katharina Wimmer 21, Alessandro De Luca 49, Eric Legius 68, Ludwine M Messiaen 1
المساهمون: Koczkowska, M, Callens, T, Yunjia Chen, 1, Alicia Gomes, 1, Alesha, D Hicks 1, Angela Sharp, 1, Eric Johns, 1, Kim Armfield Uhas, 2, Linlea Armstrong, 3, Katherine Armstrong Bosanko, 4, Dusica Babovic-Vuksanovic, 5, Laura Baker, 6, Donald, G Basel 7, Mario Bengala, 8, James, T Bennett 9, Chelsea Chambers, 10, Lola, K Clarkson 11, Maurizio Clementi, 12, Fanny, M Cortés 13, Mitch Cunningham, 14, M Daniela D'Agostino, 15, Martin, B Delatycki 16, Maria, C Digilio 17, Laura Dosa, 18, Silvia Esposito, 19, Stephanie Fox, 15, Mary-Louise Freckmann, 20, Christine Fauth, 21, Teresa Giugliano, 22, Giustini, S, Allison Goetsch, 24, Yael Goldberg, 25, Robert, S Greenwood 26, Cristin Griffis, 7, Karen, W Gripp 6, Punita Gupta, 27, Eric Haan, 28, Rachel, K Hachen 29, Tamara, L Haygarth 30, Concepción Hernández-Chico, 31, Katelyn Hodge, 32, Robert, J Hopkin 33, Louanne Hudgins, 34, Sandra Janssens, 35, Kory Keller, 36, Geraldine Kelly-Mancuso, 33, Aaina Kochhar, 37, Bruce, R Korf 1, Andrea, M Lewis 38, Jan Liebelt, 39, Angie Lichty, 11, Robert, H Listernick 24, Michael, J Lyons 11, Isabelle Maystadt, 40, Mayra Martinez Ojeda, 41, Carey McDougall, 42, Lesley, K McGregor 39, Daniela Melis, 43, Nancy Mendelsohn, 44, Malgorzata J, M Nowaczyk 45, June Ortenberg, 15, Karin Panzer, 46, John, G Pappas 47, Mary Ella Pierpont, 48, Giulio Piluso, 22, Valentina Pinna, 49, Eniko, K Pivnick 50, Dinel, A Pond 44, Cynthia, M Powell 51, Caleb Rogers, 36, Noa Ruhrman Shahar, 25, S Lane Rutledge, 1, Veronica Saletti, 19, Sarah, A Sandaradura 52, Claudia Santoro, 53, Ulrich, A Schatz 21, Allison Schreiber, 54, Daryl, A Scott 38, Elizabeth, A Sellars 4, Ruth Sheffer, 55, Elizabeth Siqveland, 44, John, M Slopis 56, Rosemarie Smith, 57, Alberto Spalice, 58, David, W Stockton 14, Haley Streff, 38, Amy Theos, 59, Gail, E Tomlinson 60, Grace Tran, 61, Pamela, L Trapane 62, Eva Trevisson, 12, Nicole, J Ullrich 63, Jenneke Van den Ende, 64, Samantha, A Schrier Vergano 65, Stephanie, E Wallace 9, Michael, F Wangler 38, David, D Weaver 32, Kaleb, H Yohay 66, Elaine Zackai, 42, Jonathan Zonana, 36
مصطلحات موضوعية: NF1, genotype-phenotype correlation, p.Arg1276, p.Lys1423, p.Met1149
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31595648; info:eu-repo/semantics/altIdentifier/wos/WOS:000492598500001; volume:41; issue:1; firstpage:299; lastpage:315; numberofpages:17; journal:HUMAN MUTATION; https://hdl.handle.net/11573/1666081Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85074609550
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المؤلفون: Rishika P. Sakaria (11755922), Parul G. Zaveri (11755925), Shannon Holtrop (11755928), Jie Zhang (64655), Chester W. Brown (11336535), Eniko K. Pivnick (11755931)
مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, KMT2D, kabuki syndrome (KS), holoprosencephaly (HPE), congenital anomalies, truncus, PAPVR, whole exome sequencing