The burden of disease and injury in the United States 1996

Autor: Salomon Joshua A, Ezzati Majid, Ebrahim Shahul, Bulzacchelli Maria T, Majmudar Meghna, Tomijima Niels, Begg Stephen, McKenna Matthew T, Michaud Catherine M, Gaber Kreiser Jessica, Hogan Mollie, Murray Christopher JL

Publikováno v: Population Health Metrics, Vol 4, Iss 1, p 11 (2006)

Abstract Background Burden of disease studies have been implemented in many countries using the Disability-Adjusted Life Year (DALY) to assess major health problems. Important objectives of the study were to quantify intra-country differentials in he

Externí odkaz: https://doaj.org/article/f32167e6d4694ce796a3f8fba6446893

Genetic Implications in High-Risk Pregnancy and Its Outcome: A 2-Year Study.

Autor: Afifi HH; Division of Human Genetics and Genome Research, Department of Clinical Genetics, Developmental Assessment and Genetic Disorders Clinic, National Research Centre, Cairo, Egypt., Gaber KR; Division of Human Genetics and Genome Research, Department of Prenatal Diagnosis and Fetal Medicine, National Research Centre, Cairo, Egypt., Thomas MM; Division of Human Genetics and Genome Research, Department of Clinical Genetics, Developmental Assessment and Genetic Disorders Clinic, National Research Centre, Cairo, Egypt., Taher MB; Division of Human Genetics and Genome Research, Department of Clinical Genetics, Developmental Assessment and Genetic Disorders Clinic, National Research Centre, Cairo, Egypt., Tosson AMS; Department of Pediatrics, Faculty of Medicine, Cairo University, Cairo, Egypt.

Publikováno v: American journal of perinatology [Am J Perinatol] 2022 Nov; Vol. 39 (15), pp. 1659-1667. Date of Electronic Publication: 2021 Feb 26.

Molecular diagnosis in recessive pediatric neurogenetic disease can help reduce disease recurrence in families.

Autor: Issa MY; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, 12311, Egypt., Chechlacz Z; Departments of Neurosciences and Pediatrics, Rady Children's Institute for Genomic Medicine, Howard Hughes Medical Institute, University of California San Diego, La Jolla, CA, 92093, USA., Stanley V; Departments of Neurosciences and Pediatrics, Rady Children's Institute for Genomic Medicine, Howard Hughes Medical Institute, University of California San Diego, La Jolla, CA, 92093, USA., George RD; Departments of Neurosciences and Pediatrics, Rady Children's Institute for Genomic Medicine, Howard Hughes Medical Institute, University of California San Diego, La Jolla, CA, 92093, USA., McEvoy-Venneri J; Departments of Neurosciences and Pediatrics, Rady Children's Institute for Genomic Medicine, Howard Hughes Medical Institute, University of California San Diego, La Jolla, CA, 92093, USA., Belandres D; Departments of Neurosciences and Pediatrics, Rady Children's Institute for Genomic Medicine, Howard Hughes Medical Institute, University of California San Diego, La Jolla, CA, 92093, USA., Elbendary HM; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, 12311, Egypt., Gaber KR; Prenatal Diagnosis and Fetal Medicine Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, 12311, Egypt., Nabil A; Prenatal Diagnosis and Fetal Medicine Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, 12311, Egypt., Abdel-Hamid MS; Medical Molecular Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt., Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, 12311, Egypt. dr_mahazaki@yahoo.com., Gleeson JG; Departments of Neurosciences and Pediatrics, Rady Children's Institute for Genomic Medicine, Howard Hughes Medical Institute, University of California San Diego, La Jolla, CA, 92093, USA. jogleeson@ucsd.edu.

Publikováno v: BMC medical genomics [BMC Med Genomics] 2020 May 13; Vol. 13 (1), pp. 68. Date of Electronic Publication: 2020 May 13.

Identification of a novel homozygous ALX4 mutation in two unrelated patients with frontonasal dysplasia type-2.

Autor: El-Ruby M; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt., El-Din Fayez A; Medical Molecular Genetics and Enzymology Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt., El-Dessouky SH; Prenatal Diagnosis and Fetal Medicine Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt., Aglan MS; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt., Mazen I; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt., Ismail N; Medical Molecular Genetics and Enzymology Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt., Afifi HH; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt., Eid MM; Human Cytogenetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt., Mostafa MI; Orodental Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt., Mehrez MI; Orodental Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt., Khalil Y; Orodental Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt., Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt., Gaber KR; Prenatal Diagnosis and Fetal Medicine Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt., Abdel-Hamid MS; Medical Molecular Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt., Abdel-Salam GMH; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2018 May; Vol. 176 (5), pp. 1190-1194.

Fetal brain disruption sequence versus fetal brain arrest: A distinct autosomal recessive developmental brain malformation phenotype.

Autor: Abdel-Salam GM; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt., Abdel-Hamid MS, El-Khayat HA, Eid OM, Saba S, Farag MK, Saleem SN, Gaber KR

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2015 May; Vol. 167A (5), pp. 1089-99. Date of Electronic Publication: 2015 Mar 10.