Results 141 to 150 of about 11,012 (235)

Novel Missense Variant in the FGFR1 Gene Associated With Prenatal Diagnosis of Hartsfield Syndrome. [PDF]

Prenat Diagn
Hodges MB, Gilmore KL, Dyke MJ, Vora NL.
europepmc   +1 more source

A Case of Ethmocephaly in a Clomiphene Citrate Induced Pregnancy: A Case Report and Literature Review. [PDF]

Clin Case Rep
Negasi Gebreslase M, Reta BK, Yeman A, Guesh H, Abraha M, Negash D, Solomon A, Birhane Y.   +7 more
europepmc   +1 more source

Malformation Pattern and Molecular Findings in the <i>FGFR1</i>-Related Hartsfield Syndrome Phenotype. [PDF]

Med Sci (Basel)
Gaudioso F, Pascolini G.
europepmc   +1 more source

Molecular and clinical heterogeneity in an Iranian case series of Joubert syndrome. [PDF]

Mol Genet Metab Rep
Khalilian S, Fathi M, Farbood Z, Dehghanian F, Masoudi M, Ghafouri-Fard S, Dastgheib SA, Miryounesi M.   +7 more
europepmc   +1 more source

Mutational Spectrum in Holoprosencephaly Shows That FGF is a New Major Signaling Pathway

Human Mutation, 2016
C. Dubourg, W. Carré, Houda Hamdi-Rozé, C. Mouden, J. Roume, Benmansour Abdelmajid, Daniel L. Amram, C. Baumann, N. Chassaing, C. Coubes, L. Faivre-Olivier, E. Ginglinger, M. Gonzalès, A. Levy‐Mozziconacci, S. Lynch, Sophie Naudion, L. Pasquier, A. Poidvin, F. Prieur, P. Sarda, A. Toutain, V. Dupé, Linda Akloul, S. Odent, M. de Tayrac, V. David   +25 more
semanticscholar   +1 more source

Cyclopia Syndrome with Neck Presentation: A Case of Alobar Holoprosencephaly and Prenatal Diagnostic Challenges. [PDF]

Int Med Case Rep J
Taifour W, Ranjous Y, Khoury M, Alshammy H, Abbassi H.   +4 more
europepmc   +1 more source

Clinical and Demographic Evaluation of a Holoprosencephaly Cohort From the Kyoto Collection of Human Embryos

The Anatomical Record, 2018
Yu Abe, P. Kruszka, Ariel F. Martinez, E. Roessler, K. Shiota, S. Yamada, M. Muenke   +6 more
semanticscholar   +1 more source

Prerepair Mortality in Cleft Lip and/or Palate: A Retrospective Analysis of Early Childhood Deaths. [PDF]

Cleft Palate Craniofac J
Wan R, Adam EA, Jabs EW, Pichurin PN, Mardini S, Gibreel W.   +5 more
europepmc   +1 more source

Surgeon Perspectives on Cleft Lip and Palate Repair in Patients With Life-Limiting and Terminal Illnesses: An ACPA Member Survey. [PDF]

Cleft Palate Craniofac J
Sullivan LE, Alter NE, Hiller AR, Braun SA, Galdyn IA, Golinko MS, Pontell ME.   +6 more
europepmc   +1 more source

Hydranencephaly in Neonate With Prenatal Exposure to Alcohol During Pregnancy. [PDF]

Clin Case Rep
Chaudhary DR, Koirala D, Lamichhane S, Mishra B.   +3 more
europepmc   +1 more source