Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 9 publications
A Deep Intronic PKHD1 Variant Identified by SpliceAI in a Deceased Neonate With Autosomal Recessive Polycystic Kidney Disease.
Journal: American journal of kidney diseases : the official journal of the National Kidney Foundation
Published: July 31, 2023
Like Mother, Like Daughter: Feeding Intolerance in the NICU.
Journal: NeoReviews
Published: November 02, 2021
Detection and impact of genetic disease in a level IV neonatal intensive care unit.
Journal: Journal of perinatology : official journal of the California Perinatal Association
Published: July 23, 2021
PI3K signaling specifies proximal-distal fate by driving a developmental gene regulatory network in SOX9+ mouse lung progenitors.
Journal: eLife
Published: February 27, 2021
CHARGE syndrome in the era of molecular diagnosis: Similar outcomes in those without coloboma or choanal atresia.
Journal: European journal of medical genetics
Published: June 11, 2020
Confirmatory testing illustrates additional risks for structural sex chromosome abnormalities in fetuses with a non-invasive prenatal screen positive for monosomy X.
Journal: American journal of medical genetics. Part C, Seminars in medical genetics
Published: April 02, 2020
CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: April 03, 2019
Characterization of the hepatosplenic and portal venous findings in patients with Proteus syndrome.
Journal: American journal of medical genetics. Part A
Published: May 20, 2018
Showing 1-9 of 9
Last Updated: 09/26/2026