Works matching DE "GENETIC disorders in children"

Results: 701

HFE Gene Mutations as Predisposing Factors for Childhood Acute Lymphoblastic Leukaemia in Iraqi Patients.

Published in:

University of Thi-Qar Journal of Science, 2024, v. 11, n. 1, p. 63, doi. 10.32792/utq/utjsci/v11i1.1153

By:

Ibrahim, Thanaa K.;
Albandar, Intisar;
Jabbar, Shilan;
Khalid, Raghda W.

Publication type:

Article

Anesthetic considerations for scoliosis surgery in a patient with recessive severe/lethal form of osteogenesis imperfecta.

Published in:

Pediatric Anesthesia, 2018, v. 28, n. 9, p. 817, doi. 10.1111/pan.13461

By:

Chin, Joel W. E.;
Stuart, Grant M.

Publication type:

Article

2p24.1p23.2 deletion and delayed recovery after a general anesthesia for gastrointestinal endoscopic procedure.

Published in:

Pediatric Anesthesia, 2017, v. 27, n. 6, p. 665, doi. 10.1111/pan.13095

By:

Dewé, Guillaume;
Hermans, Emmanuel;
Lavand'homme, Patricia;
Polaner, David

Publication type:

Article

Tamiz neonatal y fenilcetonuria.

Published in:

Acta Pediatrica de Mexico, 2012, v. 33, n. 6, p. 272

By:

Vela-Amieva, Marcela;
Ibarra González, Isabel;
Belmont-Martínez, Leticia

Publication type:

Article

Mortality among infants with congenital malformations, New York State, 1983 to 1988.

Published in:

Public Health Reports, 1996, v. 111, n. 4, p. 359

By:

Druschel, Charlotte;
Hughes, Jeffrey P.

Publication type:

Article

RET promoter variations in familial African degenerative leiomyopathy (ADL): first report of a possible genetic-environmental interaction.

Published in:

2012

By:

Rensburg, C.;
Moore, S.;
Zaahl, M.

Publication type:

Report

Pancreatic head resection preserving the main pancreatic duct for congenital hyperinsulinism of infancy.

Published in:

Pediatric Surgery International, 2012, v. 28, n. 9, p. 935, doi. 10.1007/s00383-012-3147-x

By:

Obatake, Masayuki;
Mochizuki, Kyoko;
Taura, Yasuaki;
Inamura, Yukio;
Nakatomi, Akiko;
Kinoshita, Fumiko;
Nagayasu, Takeshi

Publication type:

Article

Fryns syndrome a presentation of two siblings with congenital diaphragmatic hernia.

Published in:

2011

By:

Aboud, Mohammed;
Al-Shamsy, Mohammed;
Aboud, Mohammed Joudi;
Al-Shamsy, Mohammed Mojar

Publication type:

journal article

Closed gastroschisis.

Published in:

2011

By:

Shalaby, Aly;
Davenport, Mark

Publication type:

commentary

Hereditary pancreatitis.

Published in:

2010

By:

Lal, Alysandra;
Lal, Dave;
Lal, Dave R

Publication type:

journal article

Posterior sagittal approach with perirectal dissection for reconstructive surgery of severe urogenital anomalies.

Published in:

2007

By:

Pinter, Andras;
Hock, Andrew;
Vastyan, Attila M.;
Farkas, Andrew;
Oberritter, Zsolt

Publication type:

journal article

The immediate and long-term outcomes of newborns with congenital diaphragmatic hernia.

Published in:

2006

By:

Crankson, Stanley J.;
Al Jadaan, Saud A.;
Namshan, Mohammed A.;
Al-Rabeeah, Abdullah A.;
Oda, Omar

Publication type:

journal article

Late-presenting congenital diaphragmatic hernia in children: a clinical spectrum.

Published in:

Pediatric Surgery International, 2004, v. 20, n. 9, p. 658, doi. 10.1007/s00383-004-1269-5

By:

Baglaj, Maciej

Publication type:

Article

Hemophilia Care in the Pediatric Age.

Published in:

Journal of Clinical Medicine, 2017, v. 6, n. 5, p. 54, doi. 10.3390/jcm6050054

By:

Bertamino, Marta;
Riccardi, Francesca;
Banov, Laura;
Svahn, Johanna;
Molinari, Angelo Claudio

Publication type:

Article

Heritability of attention problems in children: longitudinal results from a study of twins, age 3 to 12.

Published in:

Journal of Child Psychology & Psychiatry, 2004, v. 45, n. 3, p. 577, doi. 10.1111/j.1469-7610.2004.00247.x

By:

Rietveld, M.J.H.;
Hudziak, J.J.;
Bartels, M.;
Beijsterveldt, C.E.M.;
Boomsma, D.I.

Publication type:

Article

Lethal Language, Lethal Decisions.

Published in:

Hastings Center Report, 2003, v. 33, n. 2, p. 37, doi. 10.2307/3528153

By:

KOOGLER, TRACY K.;
WILFOND, BENJAMIN S.;
ROSS, LAINIE FRIEDMAN

Publication type:

Article

Anesthetic case in a child with congenital neuromuscular disease with uniform type 1 fibers (CNMDU1).

Published in:

Journal of Anesthesia, 2010, v. 24, n. 5, p. 797, doi. 10.1007/s00540-010-0977-3

By:

Okutani, Ryu;
Arashi, Daisuke;
Tsujii, Kenji

Publication type:

Article

Anesthetic management of a child with Langer-Giedion (TRPS II) syndrome.

Published in:

Journal of Anesthesia, 2009, v. 23, n. 3, p. 456, doi. 10.1007/s00540-009-0779-7

By:

MICHALEK, PAVEL;
DOHERTY, JOHN T.;
VESELA, MICHAELA MICHALKOVA

Publication type:

Article

Ichthyosis follicularis, atrichia, and photophobia syndrome associated with a new mutation in MBTPS2.

Published in:

Clinical & Experimental Dermatology, 2015, v. 40, n. 5, p. 529, doi. 10.1111/ced.12587

By:

Fong, K.;
Takeichi, T.;
Liu, L.;
Pramanik, R.;
Lee, J.;
Akiyama, M.;
McGrath, J. A.

Publication type:

Article

Childhood-onset mild cutaneous porphyria with compound heterozygotic mutations in the uroporphyrinogen decarboxylase gene.

Published in:

Clinical & Experimental Dermatology, 2008, v. 33, n. 5, p. 602, doi. 10.1111/j.1365-2230.2008.02734.x

By:

Remenyik, É;
Lecha, M.;
Badenas, C.;
Kószó, F.;
Vass, V.;
Herrero, C.;
Varga, V.;
Emri, G.;
Balogh, A.;
Horkay, I.

Publication type:

Article

Dermatoglyphics in congenital absence of phalanges of the right hand.

Published in:

Clinical & Experimental Dermatology, 1994, v. 19, n. 5, p. 412, doi. 10.1111/j.1365-2230.1994.tb02696.x

By:

Verbov, J.

Publication type:

Article

Kenny-Caffey syndrome type 1.

Published in:

2014

By:

El Jabbour, Tony;
Aboursheid, Tarek;
Keifo, Mohammad Baraa;
Maksoud, Ismael;
Alasmar, Diana

Publication type:

Case Study

Face Recognition in Children with a Pervasive Developmental Disorder Not Otherwise Specified.

Published in:

Journal of Autism & Developmental Disorders, 2003, v. 33, n. 3, p. 303, doi. 10.1023/A:1024458618172

By:

Serra, M.;
Aithaus, M.;
De Sonnevilte, L. M. J.;
Stant, A. D.;
Jackson, A. E.;
Minderaa, R. B.

Publication type:

Article

Adaptive Behavior in Young Children with Neurofibromatosis Type 1.

Published in:

International Journal of Pediatrics, 2013, p. 1, doi. 10.1155/2013/690432

By:

Klein-Tasman, Bonita P.;
Colon, Alina M.;
Brei, Natalie;
Fluit, Faye van der;
Casnar, Christina L.;
Janke, Kelly M.;
Basel, Donald;
Siegel, Dawn H.;
Walker, Jasmine A.

Publication type:

Article

Citrin deficiency: A rare but important metabolic disorder to consider in infants with faltering growth and hyperbilirubinaemia.

Published in:

2017

By:

Stapleton, Ciara;
Boulter, Emily;
Balasubramaniam, Shanti

Publication type:

Case Study

Primary ciliary dyskinesia: Overlooked and undertreated in children.

Published in:

Journal of Paediatrics & Child Health, 2014, v. 50, n. 12, p. 952, doi. 10.1111/jpc.12628

By:

Hosie, Patrick;
Fitzgerald, Dominic A;
Jaffe, Adam;
Birman, Catherine S;
Morgan, Lucy

Publication type:

Article

Noonan syndrome.

Published in:

Journal of Paediatrics & Child Health, 2014, v. 50, n. 10, p. E14, doi. 10.1111/j.1440-1754.2010.01970.x

By:

Turner, Anne M

Publication type:

Article

Familial hypercholesterolaemia in children and adolescents: A new paediatric model of care.

Published in:

Journal of Paediatrics & Child Health, 2013, v. 49, n. 4, p. E263, doi. 10.1111/jpc.12036

By:

Martin, Andrew C;
Coakley, John;
Forbes, David A;
Sullivan, David R;
Watts, Gerald F

Publication type:

Article

Ethical issues in bone marrow transplantation in children.

Published in:

Journal of Paediatrics & Child Health, 2011, v. 47, n. 9, p. 614, doi. 10.1111/j.1440-1754.2011.02165.x

By:

Bendorf, Aric;
Kerridge, Ian H

Publication type:

Article

HYPOGAMMAGLOBULINEMIA IN A 12-YEAR-OLD PATIENT WITH JACOBSEN SYNDROME.

Published in:

Journal of Paediatrics & Child Health, 2011, v. 47, n. 7, p. 485, doi. 10.1111/j.1440-1754.2011.02136.x

By:

Fernández-San José, Carolina;
Martín-Nalda, Andrea;
Vendrell Bayona, Teresa;
Soler-Palacín, Pere

Publication type:

Article

Impacts of national surveillance for uncommon conditions in childhood.

Published in:

Journal of Paediatrics & Child Health, 2007, v. 43, n. 11, p. 724, doi. 10.1111/j.1440-1754.2007.01216.x

By:

Zurynski, Yvonne A;
Peadon, Elizabeth;
Bower, Carol;
Elliott, Elizabeth J

Publication type:

Article

Business and Breakthrough: Framing (Expanded) Genetic Carrier Screening for the Public.

Published in:

Health Communication, 2017, v. 32, n. 9, p. 1051, doi. 10.1080/10410236.2016.1196515

By:

Holton, Avery E.;
Canary, Heather E.;
Wong, Bob

Publication type:

Article

Aunting as a Call to Public Intellectualism: The Roles of (In)Visibility in Health Communication Research and Service.

Published in:

Health Communication, 2017, v. 32, n. 8, p. 1043, doi. 10.1080/10410236.2016.1196516

By:

Tikkanen, Stephanie A.

Publication type:

Article

A Novel Mutation in the SURF1 Gene in a Child With Leigh Disease, Peripheral Neuropathy, and Cytochrome-c Oxidase Deficiency.

Published in:

Journal of Child Neurology, 2002, v. 17, n. 3, p. 235, doi. 10.1177/088307380201700318

By:

Bruno, Claudio;
Biancheri, Roberta;
Garavaglia, Barbara;
Biedi, Claudia;
Rossi, Andrea;
Lamba, Laura Doria;
Bado, Massimo;
Greco, Marilena;
Zeviani, Massimo;
Minetti, Carlo

Publication type:

Article

Correspondence.

Published in:

2001

By:

Innes, A. Micheil

Publication type:

Letter

Early Cognitive and Communication Development in Children With Focal Brain Lesions.

Published in:

Journal of Child Neurology, 2001, v. 16, n. 5, p. 309, doi. 10.2310/7010.2001.17893

By:

Chilosi, Anna M.;
Cipriani, Paola;
Bertuccelli, Barbara;
Pfanner, Lucia;
Cioni, Giovanni

Publication type:

Article

Agenesis of Corpus Callosum: Clinical Description and Etiology.

Published in:

Journal of Child Neurology, 2000, v. 15, n. 6, p. 401

By:

Marszal, Elzbieta;
Jamroz, Ewa;
Pilch, Jacek;
Kluczewska, Ewa;
Jablecka-Deja, Halina;
Krawczyk, Robert

Publication type:

Article

Novel Mutation in the CPT II Gene in a Child With Periodic Febrile Myalgia and Myoglobinuria.

Published in:

Journal of Child Neurology, 2000, v. 15, n. 6, p. 390

By:

Bruno, Claudio;
Bado, Massimo;
Minetti, Carlo;
Cordone, Giuseppe;
DiMauro, Salvatore

Publication type:

Article

Congenital Hydranencephalic-Hydrocephalic Syndrome and Mitochondrial Dysfunction.

Published in:

Journal of Child Neurology, 1999, v. 14, n. 12, p. 824, doi. 10.1177/088307389901401214

By:

Castro-Gago, Manuel;
Eiris-Punal, Jesus;
Iglesias-Diz, Manuel

Publication type:

Article

Parental Burden, Coping, and Family Functioning in Primary Caregivers of Children With Joubert...

Published in:

Journal of Child Neurology, 1999, v. 14, n. 10, p. 642, doi. 10.1177/088307389901401004

By:

Luescher, Jennifer L.;
Dede, Duane E.;
Gitten, Jill C.;
Fennell, Eileen;
Maria, Bernard L.

Publication type:

Article

Autism and Autistic Behavior in Joubert Syndrome.

Published in:

Journal of Child Neurology, 1999, v. 14, n. 10, p. 636, doi. 10.1177/088307389901401003

By:

Ozonoff, Sally;
Williams, Brenda J.;
Gale, Susan;
Miller, Judith N.

Publication type:

Article

Congenital Muscular Dystrophy With Complete Laminin-alpha2-Deficiency, Cortical Dysplasia, and...

Published in:

Journal of Child Neurology, 1998, v. 13, n. 6, p. 253, doi. 10.1177/088307389801300602

By:

Chang-Yong Tsao;
Mendell, Jerry R.;
Rusin, Jerome;
Luquette, Mark

Publication type:

Article

Negotiating blame and responsibility in the context of a “ de novo ” mutation.

Published in:

New Genetics & Society, 2014, v. 33, n. 2, p. 149, doi. 10.1080/14636778.2014.910450

By:

Dimond, Rebecca

Publication type:

Article

Questions of kinship and inheritance in pediatric genetics: substance and responsibility.

Published in:

New Genetics & Society, 2011, v. 30, n. 4, p. 399, doi. 10.1080/14636778.2011.592011

By:

McLaughlin, Janice;
Clavering, Emma K.

Publication type:

Article

Topical Review: The Emerging Field of Epigenetics: Informing Models of Pediatric Trauma and Physical Health.

Published in:

2016

By:

Nugent, Nicole R.;
Goldberg, Amy;
Uddin, Monica

Publication type:

journal article

A Rare Case of Gingival Fibromatosis Associated with Hypertrichosis and a Dysmorphic Face.

Published in:

2011

By:

Kulkarni, Parimala;
Agrawal, Neeraj;
Tyagi, Sanjeev;
Kambalimath, Halaswamy

Publication type:

Case Study

Card v. United Kingdom. Does the State Know Best?

Published in:

Tulane Journal of International & Comparative Law, 2018, v. 26, n. 2, p. 405

By:

Broad, Rosalyn

Publication type:

Article

Relating Prenatal Testosterone Exposure to Postnatal Behavior in Typically Developing Children: Methods and Findings.

Published in:

Child Development Perspectives, 2012, v. 6, n. 4, p. 407, doi. 10.1111/j.1750-8606.2012.00257.x

By:

Constantinescu, Mihaela;
Hines, Melissa

Publication type:

Article

KID syndrome patient with toe walking: A case report.

Published in:

Developmental Neurorehabilitation, 2009, v. 12, n. 3, p. 175, doi. 10.1080/17518420902897973

By:

Karadag-Saygi, Evrim;
Ustun, Isil;
Erol, Bulent;
Yucelten, Deniz

Publication type:

Article

Papillon Lefevre syndrome.

Published in:

2017

By:

Chaubal, T.;
Bapat, R.;
P. Wadkar

Publication type:

Case Study