المؤلفون: AlAbdi, Lama^1,2 (AUTHOR), Rahbeeni, Zuhair³ (AUTHOR), Maddirevula, Sateesh² (AUTHOR), Helaby, Rana² (AUTHOR), Abdulwahab, Firdous² (AUTHOR), Khan, Arif O.^4,5 (AUTHOR), Riley, Lisa G.^6,7 (AUTHOR), Alhashem, Amal^8,9,10 (AUTHOR), Chassaing, Nicolas^11,12 (AUTHOR), Jamieson, Robyn V.^13,14 (AUTHOR), Alkuraya, Fowzan S.^2,8,9 (AUTHOR) falkuraya@kfshrc.edu.sa

المصدر: Clinical Genetics. Jul2024, Vol. 106 Issue 1, p66-71. 6p.

مصطلحات موضوعية: *PULMONARY hypoplasia, *HUMAN abnormalities, *SYNDROMES, *SELF-expression, *MICROPHTHALMIA, *PHENOTYPES

المؤلفون: Dame, Christof, Horn, Denise, Schomburg, Lutz, Grünhagen, Johannes, Chillon, Thilo Samson, Tietze, Anna, Vogt, Annika, Bührer, Christoph

المصدر: Clinical Genetics; May2023, Vol. 103 Issue 5, p585-589, 5p

مصطلحات موضوعية: COPPER, SPINAL muscular atrophy, NEWBORN infants, INTRACRANIAL hemorrhage, PULMONARY hypoplasia

المؤلفون: Chassaing, N^1,2, Ragge, N^3,4, Kariminejad, A⁵, Buffet, A¹, Ghaderi‐Sohi, S⁵, Martinovic, J⁶, Calvas, P^1,2

المصدر: Clinical Genetics. Mar2013, Vol. 83 Issue 3, p244-250. 7p. 1 Color Photograph, 1 Chart, 1 Graph.

مصطلحات موضوعية: *GENES, *PULMONARY hypoplasia, *MICROPHTHALMIA, *DIAPHRAGMATIC hernia, *GENETIC mutation

المؤلفون: Ranit Jaron, Reeval Segel, Liran Carmel, Ephrat Levy-Lahad, Paul Renbaum, Fouad Zahdeh, Victoria Doviner, Nuphar Rosenfeld, E. Picard, Shai Carmi, Sharon Zeligson, Liana Beni-Adani

المصدر: Clinical Genetics. 90:540-544

مصطلحات موضوعية: 0301 basic medicine, Genetics, business.industry, 030105 genetics & heredity, medicine.disease, Compound heterozygosity, Ciliopathies, Ashkenazi jews, 03 medical and health sciences, Ciliopathy, Pulmonary hypoplasia, 030104 developmental biology, Ciliogenesis, medicine, business, Genetics (clinical), Exome sequencing, Ventriculomegaly

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::462791273d765ad0523432dd49905b04Test
https://doi.org/10.1111/cge.12764Test

المؤلفون: C Debry, D. Christmann, C Zorres, Hélène Dollfus, Corinne Stoetzel, Mériam Koob, Elisabeth Flori, Mélanie Fradin, M. Kohler, P Desprez, Jean Muller, Dominique Astruc, Bérénice Doray, M Isnard

المصدر: Clinical Genetics. 80:177-183

مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Molecular Sequence Data, Choanal atresia, Raine syndrome, Bone and Bones, Choanal Atresia, Pulmonary hypoplasia, Genetics, medicine, Exophthalmos, Humans, Abnormalities, Multiple, Base sequence, Amino Acid Sequence, Child, Gene classification, Gene, Genetics (clinical), Extracellular Matrix Proteins, Base Sequence, Casein Kinase I, business.industry, medicine.disease, Phenotype, Cleft Palate, Dysplasia, Child, Preschool, Mutation, Microcephaly, Female, business, Osteosclerosis

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a6805cd265e83473548af37337212cfdTest
https://doi.org/10.1111/j.1399-0004.2010.01516.xTest

المؤلفون: Arthur S. Aylsworth, Jeffrey A. Kuller, Kathleen W. Rao, Steven R. Wells

المصدر: Clinical Genetics. 49:216-219

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Pediatrics, medicine.medical_specialty, Poor prognosis, Fetus, medicine.diagnostic_test, Prenatal diagnosis, Biology, medicine.disease, Central nervous system disease, Pulmonary hypoplasia, Endocrinology, Internal medicine, dup, Genetics, medicine, Amniocentesis, Multiple congenital malformations, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::94dab86fb7645063d3c8a9a9c4c5fd9bTest
https://doi.org/10.1111/j.1399-0004.1996.tb03290.xTest

المؤلفون: Charles I. Scott, Charleen M. Moore, Solveig M. V. Pflueger

المصدر: Clinical Genetics. 25:543-548

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Aneuploidy, Chromosome Disorders, Trisomy, Autopsy, Biology, Kidney, Pulmonary hypoplasia, Genetics, medicine, Humans, Abnormalities, Multiple, Respiratory system, Lung, Renal agenesis, Genetics (clinical), Potter Syndrome, Chromosome Aberrations, Chromosomes, Human, 6-12 and X, Chromosome 7 (human), Mosaicism, Infant, Newborn, Syndrome, medicine.disease, Face, Female

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df5e2f36495c0820d4f859fe2f53abd1Test
https://doi.org/10.1111/j.1399-0004.1984.tb00499.xTest

المؤلفون: Timothy J. David

المصدر: Clinical Genetics. 17:299-300

مصطلحات موضوعية: Hernia, Diaphragmatic, medicine.medical_specialty, business.industry, Incidence (epidemiology), Diaphragmatic breathing, Congenital diaphragmatic hernia, Prenatal diagnosis, medicine.disease, Abortion rate, Surgery, Pulmonary hypoplasia, Pregnancy, Prenatal Diagnosis, Genetics, Humans, Medicine, Female, Diaphragmatic hernia, Hernia, Hernias, Diaphragmatic, Congenital, business, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19ac4a57cbb3a9d4c8d9653b7aaf78c6Test
https://doi.org/10.1111/j.1399-0004.1980.tb00151.xTest