Results 131 to 140 of about 10,496 (209)

선천성 뇌 질환의 영상 소견: 임상 화보. [PDF]

J Korean Soc Radiol
Gala F, Jain N, Salunke N.
europepmc   +1 more source

13q Deletion Syndrome Presenting with Lymphopenia Detected Through Newborn Screening for Primary Immunodeficiencies. [PDF]

Int J Mol Sci
Efimova I, Mukhina A, Markova Z, Mordanov S, Soprunova I, Pershin D, Balinova N, Petrusenko Y, Meleshko D, Zinchenko R, Shilova N, Voronin S, Shcherbina A, Kutsev S, Marakhonov A.   +14 more
europepmc   +1 more source

Assessing the clinical application value of SNP-array in fetal central nervous system malformations. [PDF]

Hum Genomics
Li W, Su J, Lu W, Tang X, Zhou C, Lan Y, Wei Y, Huang L, Luo J, Ou S, Tan S, Wei S, Jiang Y, Su J, Wang L, Huang M, Luo J, Huang P.   +17 more
europepmc   +1 more source

Congenital Holoprocencephaly, Hydrocephalus, and Dandy-Walker Malformation Due to Plasminogen Deficiency. [PDF]

Cureus
Antonakopoulos N, Perdikaris P, Styliara I, Tzela P, Adonakis G.   +4 more
europepmc   +1 more source

Undetected cases after implementation of first-trimester anomaly scan in low-risk population: insights from the IMITAS study. [PDF]

Ultrasound Obstet Gynecol
Bronsgeest K, Lust EER, Zaaijer SCE, Henneman L, Crombag N, Bilardo CM, Galjaard RH, Sikkel E, Teunissen AKK, Bekker MN, Haak MC, Collaborators.   +11 more
europepmc   +1 more source

Case Report: A case of Culler-Jones syndrome caused by <i>GLI2</i> gene mutation. [PDF]

Front Pediatr
Xie X, Wei Y, Li Y, Wang J, Zhang Y, Wu J, Wang F.   +6 more
europepmc   +1 more source

Congenital Anomalies in a Neonate With Partial Monosomy of Chromosome 21 q Arm: A Case Report. [PDF]

Cureus
Joy P, Datta S, Sahoo S, Som TK, Tripathy PR, Gaikwad MR, Ayyanar P, Raghav SK.   +7 more
europepmc   +1 more source

Holoprosencephaly and cyclopia in <i>bmp7b</i> and <i>bmpr1ba</i> Crispant zebrafish. [PDF]

Anim Cells Syst (Seoul)
Kyrychenko V, Rensinghoff P, Bulk J, Frey C, Heermann S.   +4 more
europepmc   +1 more source

Complete pentalogy of Cantrell associated with ectopia cordis and multiple anomalies: A case report from a low-resource setting. [PDF]

Radiol Case Rep
Dusuri E, Asante CG, Gyamfi BA, Nartey ET, Amaning OA, Arkorful J.   +5 more
europepmc   +1 more source

Epidemiological Surveillance of Genetically Determined Microcephaly in Latin America: A Narrative Review. [PDF]

Epidemiologia (Basel)
Gonzalez-Fernandez MD, Jiménez-Gil K, Garcés-Ramírez L, Martínez-Juárez A, Moreno-Verduzco ER, Solís-Paredes JM, Pérez-Durán J, Torres-Torres J, Monroy-Muñoz IE.   +8 more
europepmc   +1 more source