Children's Mercy Hospital

Hospital


Location: Kansas City, MO, United States (USA) (US) US

ISNI: 0000000404155050

ROR: https://ror.org/04zfmcq84

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Types of publications

Journal article
Book chapter / Article in edited volumes
Authored book
Translation
Thesis
Edited Volume
Conference contribution
Other publication type
Unpublished / Preprint

Publication year

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To

Abstract

Journal

A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3 (2024) Paul MS, Michener SL, Pan H, Chan H, Pfliger JM, Rosenfeld JA, Lerma VC, et al. Journal article LHX2 haploinsufficiency causes a variable neurodevelopmental disorder (2023) Schmid CM, Gregor A, Costain G, Morel CF, Massingham L, Schwab J, Quélin C, et al. Journal article X-linked variations in SHROOM4 are implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems (2022) Kolvenbach CM, Felger T, Schierbaum L, Thiffault I, Pastinen T, Szczepanska M, Zaniew M, et al. Journal article Hemoglobin A1c patterns of youth with type 1 diabetes 10 years post diagnosis from 3 continents (2021) Sherr JL, Schwandt A, Phelan H, Clements MA, Holl RW, Benitez-Aguirre PZ, Miller KM, et al. Journal article Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders (2021) Gillentine MA, Wang T, Hoekzema K, Rosenfeld J, Liu P, Guo H, Kim CN, et al. Journal article Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot (2021) Škorić-Milosavljević D, Lahrouchi N, Bosada FM, Dombrowsky G, Williams SG, Lesurf R, Tjong FV, et al. Journal article DLG4-related synaptopathy: a new rare brain disorder (2021) Rodriguez-Palmero A, Boerrigter MM, Gomez-Andres D, Aldinger KA, Marcos-Alcalde I, Popp B, Everman DB, et al. Journal article Cytoreductive nephrectomy in metastatic renal cell carcinoma (Protocol) (2020) Uhlig A, Risk MC, Lyon JA, Kunath F, Bellut L Journal article, Review article Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement (2019) Zollino M, Zweier C, Van Balkom ID, Sweetser DA, Alaimo J, Bijlsma EK, Cody J, et al. Journal article, Review article