Abstract

Novel missense mutation of L1CAM in a fetus with isolated hydrocephalus.

Full Text
Published version (Free)

Talk to us

Join us for a 30 min session where you can share your feedback and ask us any queries you have

Schedule a call

Similar Papers

Paper Title
Journal
Date
Author
Identification of novel mutations in L1CAM gene by a DHPLC-based assay
Girolamo Aurelio Vitello ... Maria Piccione
Genes & Genomics | VOL. 38
Girolamo Aurelio Vitello, et. al.Girolamo Aurelio Vitello ... Maria Piccione
09 Aug 2016
The Study of Clinical Phenotypes and Analysis of Mutations in L1 Syndrome
Nagaraj Kakanahalli ... Shreeshail V Benakanal
Annals of Neurosciences | VOL. -
Nagaraj Kakanahalli, et. al.Nagaraj Kakanahalli ... Shreeshail V Benakanal
18 Sep 2023
Buccal swab as a reliable predictor for X inactivation ratio in inaccessible tissues
Bas De Hoon ... Joost Gribnau
Journal of Medical Genetics | VOL. 52
Bas De Hoon, et. al.Bas De Hoon ... Joost Gribnau
28 Jul 2015
Magnetic resonance imaging examination of the fetal brain
L J Salomon ... C Garel
Ultrasound in Obstetrics & Gynecology | VOL. 30
L J Salomon, et. al.L J Salomon ... C Garel
12 Nov 2007
View more papers

More From: Congenital anomalies

Paper Title
Journal
Date
Author
Expectant management of pregnancy involving fetus with lower urinary tract obstruction.
Takao Kobayashi ... Seiji Yoshimoto
Congenital anomalies | VOL. -
Takao Kobayashi, et. al.Takao Kobayashi ... Seiji Yoshimoto
15 May 2024
Upper airway obstruction due to congenital epiglottic cyst: Report of two cases.
Kensuke Uraguchi ... Mizuo Ando
Congenital anomalies | VOL. -
Kensuke Uraguchi, et. al.Kensuke Uraguchi ... Mizuo Ando
08 May 2024
-
-
Congenital Anomalies | VOL. -
--
01 May 2024
Issue Information
-
Congenital Anomalies | VOL. -
--
01 May 2024
View more papers