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Genomic Study of Congenital Malformation

• Authors : Academia Sinica, Taiwan; Fuu-Jen Tsai

• Source: Genomic Study of Congenital Malformation

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Four-limb Blood Pressures in Infants With High Risk of Congenital Malformation of Aorta

• Authors : Yifei WANG, Deputy director of the Neonatology Department, Principal Investigator

• Source: Should Four-limb Blood Pressures be Used in Infants With High Risk of Congenital Malformation of Aorta?

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СЛУЧАЙ РЕДКОГО ВРОЖДЕННОГО ПОРОКА КОСТНО-МЫШЕЧНОЙ СИСТЕМЫ – СИРЕНОМЕЛИИ В СОЧЕТАНИИ С МЕГАЦИСТИСОМ И ЕДИНСТВЕННОЙ АРТЕРИЕЙ ПУПОВИНЫ ... : A CASE OF A RARE CONGENITAL DEFECT OF THE MUSCULOSKELETAL SYSTEM – SIRENOMELIA IN COMBINATION WITH MEGACYSTIS AND A SINGLE UMBILICAL ARTERY ...

• Authors : Андрюк Наталия Игоревна; Соловьева Ольга Аркадьевна; Стопичева Светлана Леонидовна

Subjects: сиреномелия; единственная артерия пуповины; врожденный порок развития плода

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Anesthesia for surgical repair of the pentalogy of Cantrell: case report

• Authors : Costa, Jorge Victor da Silva; Melonio, Carlos Eduardo Coimbra; Vieira, Ciro Bezerra

Subjects: Pentalogy of Cantrell; Congenital malformation; Rare disease

• Source: Revista Brasileira de Anestesiologia. June 2019 69(3)

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Genomic Sequencing and Personalized Treatment for Birth Defects in Neonatal Intensive Care Units

• Authors : Children's Hospital of Fudan University; Xiamen Children's Hospital, Fujian of China; Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region

• Source: Vgno E, MarabottA, Burla AP, Cazzorla C, D'Ape MR, Grdano L, Fasan NovellG, Facchno A, Burla AB. Clal and molecular spectra galactosem patnts from neonatal screeng northeastern aly: structural and

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Lissencephaly-pachygyria and cerebellar hypoplasia in a calf

• Authors : Santos, Bianca Lemos dos; Damé, Maria Cecília Florisbal; Coelho, Ana Carolina Barreto

Subjects: lissencephaly; pachygyria; cerebellar hypoplasia

• Source: Ciência Rural. September 2016 46(9)

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Recurrent Hyperammonemia After Abernethy Malformation Type 2 Closure: a Case Report

• Authors : Li,Hui; Ma,Zhi; Xie,Ying

Subjects: Congenital malformation; Encephalopathy; Complications

• Source: Annals of Hepatology v.16 n.3 2017

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The p.Phe174Ser mutation is associated with mild forms of Smith Lemli Opitz Syndrome

• Authors : Tucci, Arianna; Ronzoni, Luisa; Arduino, Carlo

Subjects: Smith Lemli Opitz syndrome; DHCR7; Genotype-phenotype correlation

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Registro Toscano Difetti Congeniti Rapporto Annuale 2006 Rilevazione dei difetti congeniti nel periodo prenatale, alla nascita, nel primo anno di vita

• Authors : Pierini, Anna; Bianchi, Fabrizio; Minichilli, Fabrizio

Subjects: congenital malformation

• Source: Registro Toscano Difetti Congeniti Rapporto Annuale 2006 Rilevazione dei difetti congeniti nel periodo prenatale, alla nascita, nel primo anno di vita. Project report 87-06, 2008.

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The Impact of the Birth of a Child With a Rare Abdomino-thoracic Malformation (INEMAT)

• Authors : University of Lille Nord de France

• Source: Qualitative Study of the Impact of the Birth of a Child With a Rare Abdomino-thoracic Malformation on the Parental Adjustment of the First Year

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