المؤلفون: Dias, Jacqueline Jacinta¹ catchme.jacinta@gmail.com, Gupta, Ankit², Shreehari, A. K.²

المصدر: Journal of Rare Diseases. 7/10/2024, Vol. 3 Issue 1, p1-5. 5p.

مصطلحات موضوعية: *FANCONI'S anemia, *CONGENITAL disorders, *ERYTHROCYTES, *HEMORRHAGE, *ORAL manifestations of general diseases

المؤلفون: Ostojić, Slavica¹ (AUTHOR) ostojic.slavica@gmail.com, Kovačević, Gordana¹ (AUTHOR), Meola, Giovanni² (AUTHOR), Pešović, Jovan³ (AUTHOR), Savić-Pavićević, Dušanka³ (AUTHOR), Brkušanin, Miloš³ (AUTHOR), Kravljanac, Ružica¹ (AUTHOR), Perić, Marina⁴ (AUTHOR), Martić, Jelena⁵ (AUTHOR), Pejić, Katarina⁵ (AUTHOR), Ristić, Snežana⁵ (AUTHOR), Perić, Stojan⁶ (AUTHOR)

المصدر: Neuromuscular Disorders. Jul2024, Vol. 40, p16-23. 8p.

مصطلحات موضوعية: *MYOTONIA atrophica, *CONGENITAL disorders, *RESPIRATORY insufficiency, *PROGNOSIS, *NEUROMUSCULAR diseases, *ADRENAL insufficiency, *CEREBRAL anoxia-ischemia

المؤلفون: Murgiano, Leonardo^1,2 (AUTHOR), Banjeree, Esha³ (AUTHOR), O'Connor, Cynthia^4,5 (AUTHOR), Miyadera, Keiko¹ (AUTHOR), Werner, Petra^4,6 (AUTHOR), Niggel, Jessica K^1,2 (AUTHOR), Aguirre, Gustavo D^1,2 (AUTHOR), Casal, Margret L^1,4 (AUTHOR) casalml@vet.upenn.edu

المصدر: G3: Genes | Genomes | Genetics. Jun2024, Vol. 14 Issue 6, p1-13. 13p.

مصطلحات موضوعية: *CONGENITAL disorders, *MICROPHTHALMIA, *EYE diseases, *GENETIC disorders, *WHOLE genome sequencing, *HOMOZYGOSITY

المؤلفون: Malhi, Kittu¹ (AUTHOR), Mustari, Akash¹ (AUTHOR), Singh, Sukhdeep¹ (AUTHOR), Kumar, Anoop¹ (AUTHOR), Vignesh, Pandiarajan² (AUTHOR), De, Dipankar¹ (AUTHOR), Handa, Sanjeev¹ (AUTHOR), Mahajan, Rahul¹ (AUTHOR) drrahulpgi@yahoo.com

المصدر: Australasian Journal of Dermatology. Jun2024, Vol. 65 Issue 4, p402-405. 4p.

مصطلحات موضوعية: *CONGENITAL disorders, *SIBLINGS, *DERMATOMYOSITIS, *EXOCRINE pancreatic insufficiency, *NUCLEOTIDE sequencing, *GENETIC variation, *FANCONI'S anemia

المؤلفون: Koenigbauer, Josefine Theresia^1,2 (AUTHOR) Josefine.Koenigbauer@charite.de, Fangmann, Laura¹ (AUTHOR), Reinhardt, Charlotte¹ (AUTHOR), Weichert, Alexander² (AUTHOR), Henrich, Wolfgang¹ (AUTHOR), Saskia, Biskup³ (AUTHOR), Gabriel, Heinz-Peter³ (AUTHOR)

المصدر: Archives of Gynecology & Obstetrics. Jun2024, Vol. 309 Issue 6, p2613-2622. 10p.

مصطلحات موضوعية: *URINARY organs, *CONGENITAL disorders, *HUMAN abnormalities, *FETAL abnormalities, *KIDNEYS

المؤلفون: Dorgalaleh, Akbar¹ (AUTHOR) dorgalaleha@gmail.com, Safdari, Seyed Mehrab² (AUTHOR), Tabibian, Shadi³ (AUTHOR), Shams, Mahmood⁴ (AUTHOR), Dabbagh, Ali⁵ (AUTHOR), Rezazadeh, Azadeh⁶ (AUTHOR)

المصدر: Seminars in Thrombosis & Hemostasis. Jun2024, Vol. 50 Issue 4, p552-568. 17p.

مصطلحات موضوعية: *CONGENITAL disorders, *COVID-19, *HEMOPHILIACS, *INTENSIVE care units, *VON Willebrand disease, *WEB databases, *THROMBOTIC thrombocytopenic purpura

المؤلفون: Auger, Nathalie^1,2,3,4 (AUTHOR) nathalie.auger@inspq.qc.ca, Brousseau, Émilie^1,2 (AUTHOR), Lafleur, Nahantara^1,2 (AUTHOR), Arbour, Laura⁵ (AUTHOR)

المصدر: Annals of Epidemiology. Jun2024, Vol. 94, p27-32. 6p.

مصطلحات موضوعية: *CONGENITAL disorders, *HUMAN abnormalities, *ABANDONED children, *SIBLINGS, *COHORT analysis, *CHILDBIRTH

مصطلحات جغرافية: QUEBEC (Quebec)

المؤلفون: Wongsawat, Jurai¹ (AUTHOR) juraiw@hotmail.com, Thamthitiwat, Somsak² (AUTHOR), Hicks, Victoria J.³ (AUTHOR), Uttayamakul, Sumonmal¹ (AUTHOR), Teepruksa, Phanthaneeya² (AUTHOR), Sawatwong, Pongpun² (AUTHOR), Skaggs, Beth^2,3 (AUTHOR), Mock, Philip A.² (AUTHOR), MacArthur, John R.^2,3 (AUTHOR), Suya, Inthira² (AUTHOR), Sapchookul, Patranuch² (AUTHOR), Kitsutani, Paul^2,3 (AUTHOR), Lo, Terrence Q.³ (AUTHOR), Vachiraphan, Apichart¹ (AUTHOR), Kovavisarach, Ekachai⁴ (AUTHOR), Rhee, Chulwoo³ (AUTHOR), Darun, Pamorn⁵ (AUTHOR), Saepueng, Kamol⁶ (AUTHOR), Waisaen, Chamnan⁵ (AUTHOR), Jampan, Doungporn⁵ (AUTHOR)

المصدر: PLoS Neglected Tropical Diseases. 5/17/2024, Vol. 18 Issue 5, p1-30. 30p.

مصطلحات موضوعية: *ZIKA virus infections, *CONGENITAL disorders, *LOW birth weight, *REVERSE transcriptase polymerase chain reaction, *COHORT analysis, *WHOLE genome sequencing

مصطلحات جغرافية: THAILAND

المؤلفون: Steflea, Ruxandra Maria^1,2 (AUTHOR) mircea.murariu@umft.ro, Stroescu, Ramona^1,2 (AUTHOR) stroescu.ramona@umft.ro, Gafencu, Mihai^1,2 (AUTHOR) isac.raluca@umft.ro, Stoicescu, Emil Robert^3,4,5 (AUTHOR) stoicescu.emil@umft.ro, Isac, Raluca^1,2 (AUTHOR) olariu.cristina@umft.ro, Olariu, Ioana-Cristina^1,2 (AUTHOR) andrada.micsescu-olah@umft.ro, Micsescu-Olah, Andrada Mara^1,2 (AUTHOR) doros.gabriela@umft.ro, Susa, Septimiu Radu⁶ (AUTHOR) septimiu.susa@umft.ro, Murariu, Mircea^2,6 (AUTHOR), Doros, Gabriela^1,2 (AUTHOR)

المصدر: Diagnostics (2075-4418). May2024, Vol. 14 Issue 10, p994. 16p.

مصطلحات موضوعية: *URINARY organs, *CONGENITAL disorders, *HUMAN abnormalities, *PEDIATRIC nephrology, *KIDNEYS

مصطلحات جغرافية: TIMISOARA (Romania)

المؤلفون: Tolmacheva, Ekaterina¹ (AUTHOR), Bolshakova, Anna S.¹ (AUTHOR), Shubina, Jekaterina¹ (AUTHOR) jekaterina.shubina@gmail.com, Rogacheva, Margarita S.¹ (AUTHOR), Ekimov, Alexey N.¹ (AUTHOR), Podurovskaya, Julia L.¹ (AUTHOR), Burov, Artem A.¹ (AUTHOR), Rebrikov, Denis V.¹ (AUTHOR), Bychenko, Vladimir G.¹ (AUTHOR), Trofimov, Dmitry Yu.¹ (AUTHOR), Sukhikh, Gennady T.¹ (AUTHOR)

المصدر: BMC Medical Genomics. 5/14/2024, Vol. 17 Issue 1, p1-8. 8p.

مصطلحات موضوعية: *MISSENSE mutation, *CONGENITAL disorders, *HUMAN abnormalities, *PHENOTYPES, *SINGLE nucleotide polymorphisms, *INTELLECTUAL disabilities