Results 161 to 170 of about 11,012 (235)

Ophthalmologic Findings in an Induced Model of Holoprosencephaly in Zebrafish. [PDF]

J Comp Neurol
Bulk J, Kyrychenko V, Heermann S.
europepmc   +1 more source

Maternal Fish Intake in the Year Prior to Conception and Birth Defects, National Birth Defects Prevention Study, 1997-2011. [PDF]

Birth Defects Res
Waller DK, Miao Z, Benjamin RH, Finnell R, Dass NLM, Nestoridi E, de Oliveira Otto MC, Peterson J, Ramadhani T, Canfield MA, National Birth Defects Prevention Study.   +10 more
europepmc   +1 more source

Hidden in Plain Sight: A Rare 7q Deletion Masquerading as a Common Aneuploidy on Prenatal Ultrasound. [PDF]

Cureus
Abang Abdullah ZH, Mohd Alauddin M, Mohamad S, Abang Abdullah AF, Mohd Jamil AA.   +4 more
europepmc   +1 more source

Response to "Age Filtering Bias in a Retrospective Study of Pediatric Hydrocephalus".

Pediatr Neurosurg
Buccilli B.
europepmc   +1 more source

RNU4ATAC-opathy: Clinical, molecular, and transcriptomic insights from a large cohort. [PDF]

Genet Med
Matalon DR, Duker AL, Arriaga TM, Russell K, Mendez HR, Bonner DE, Harley ME, Singer-Berk M, Wojcik MH, Pais L, DiTroia S, O'Leary M, Cassini T, Ezell K, Niehaus AD, Kaplan J, Wargowski DS, Smid CJ, Longenecker ED, Rodriguez Barreto AM, Miller DE, Keefe AC, Calderwood L, Enns GM, Tekin M, Bivona SA, Vora NL, Gilmore KL, Khan TN, Davis EE, Wang AW, Khan S, Maddirevula S, Al Abdi L, Abuyousef O, Shamseldin HE, Alkhalifi S, Abdulwahab F, Alqahtani M, Alhumaidi ZA, Nadeef S, Al Hashem AM, Bakur K, Faqeih EA, Abdalla E, Clarke A, Fletcher E, Keng WT, Ousager LB, de Silva DC, Haniffa M, Mari F, Lam W, Campbell J, Homfray T, Nampoothiri S, Li C, Chaudhari BP, Truxal K, Genomics Research to Elucidate the Genetics of Rare Diseases consortium, Undiagnosed Diseases Network, Bernstein JA, Montgomery SB, Wheeler MT, Alkuraya FS, O'Donnell-Luria A, Jackson AP, Campbell IM, Ganesh VS, Robertson N, Lemire G.   +70 more
europepmc   +1 more source

Novel variants in <i>STAG2</i> and <i>PKD1</i> associate with multiple congenital malformations and autosomal dominant polycystic kidney disease in a Chinese family: A case report and literature review. [PDF]

Exp Ther Med
Yang Q, Zhang Q, Yi S, Zhou X, Ruan Y, Zhang S, Yi S, Zhang Q, Qin Z, Luo J.   +9 more
europepmc   +1 more source

Evaluation of the contribution of trio-exome sequencing in selected prenatal indications. [PDF]

Front Genet
Chretien M, Osouf J, Abel C, Afenjar A, Attie-Bitach T, Brischoux-Boucher E, Burglen L, Calmels N, Chassaing N, Courtin T, Delanne J, Doco-Fenzy M, Dubourg C, Durand B, Chehadeh SE, Faivre L, Garde A, Ginglinger E, Haushalter V, Haye D, Heide S, Heidet L, Heron D, Jacquin C, Lambert L, Lamouche JB, Laugel V, Bechec AL, Lehalle D, Michel-Calemard L, Ramirez EM, Muller J, Odent S, Patat O, Piard J, Poirsier C, Putoux A, Quelin C, Racine C, Sananes N, Schalk A, Scheidecker S, Thauvin-Robinet C, Valence S, Weingertner AS, Wourms J, Dollfus H, Gerard B, Schluth-Bolard C, Schaefer E.   +49 more
europepmc   +1 more source

Phenotyping trisomies 13 and 18 and CHARGE syndrome in fetal MRI-a proposed phenome-based, morphological disease severity score, and network medicine analysis. [PDF]

Eur Radiol
Stuempflen M, Weber M, Schwarz-Nemec U, Scharrer A, Shi H, Schmidbauer VU, Kienast P, Goeral K, Yerlikaya-Schatten G, Kasprian G, Prayer D.   +10 more
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

선천성 뇌 질환의 영상 소견: 임상 화보. [PDF]

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