Results 171 to 180 of about 120,158 (339)

Nance‐Horan Syndrome: Further Delineation of the Affected Male and the Female Carrier Phenotypes

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nance‐Horan syndrome (NHS; OMIM 302350) is a rare, X‐linked syndrome characterized by bilateral congenital cataracts leading to profound vision loss, specific dental anomalies including characteristic screwdriver blade‐shaped incisors, facial anomalies, and intellectual disability.
Maria K. Haanpää, Chad R. Haldeman‐Englert, Marja Hietala, Melisa S. Tanverdi, Patrick P. Koty, Diana Brightman, Eniolami Dosunmu, Shailja Tibrewal, Savleen Kaur, Anupriya Kaur, Raj Kumar Verma, Alejandra G. de Alba Campomanes, Virginia Utz, Anne M. Slavotinek, Cynthia Curry   +14 more
wiley   +1 more source

Detection of specific RBD+ IgG+ memory B cells by flow cytometry in healthcare workers and patients with inborn errors of immunity after BNT162b2 m RNA COVID-19 vaccination

, 2023
Lucía del Pino Molina, Luz Yadira Bravo‐Gallego, Pilar Nozal, Yolanda Soto-Serrano, Ana Martínez‐Feito, Keren Reche-Yebra, Andrea González‐Torbay, Ricardo Cuesta‐Martín de la Cámara, Carla Gianelli, Carmen Cámara, Juan González‐García, Miguel Á. Muñoz, Rebeca Rodríguez‐Pena, Eduardo López Granados   +13 more
openalex   +1 more source

Association of maternal biliary disease with hepatopancreatobiliary morbidity in offspring. [PDF]

J Pediatr Gastroenterol Nutr
Auger N, Magri A, Kang-Auger S, Jutras G, Healy-Profitós J, Bilodeau-Bertrand M, Côté-Corriveau G.   +6 more
europepmc   +1 more source

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source

Development, Validation, and Application of the Paya Hamsan Technolgies Underivatized Newborn Screening Assay (PHUNSA) for Inborn Metabolic Disorders in Dried Blood Spot Samples from Iranian Infants

Abbas Ali Khodadadi, Saber Nanbedeh, Mahsa Joodaki, Mohsen Ehsanfar, Bradford L. Therrell, Kambiz Gilany   +5 more
openalex   +1 more source

Immediate adverse events to intravenous immunoglobulin in pediatric patients with inborn errors of immunity: A longitudinal study with a pre-infusion protocol

, 2022
Thales Silva Antunes, Karina Mescouto de Melo, Cláudia França Cavalcante Valente, Fabíola Scancetti Tavares   +3 more
openalex   +1 more source

Comprehensive approach to primary immunodeficiencies in adulthood: recognition and diagnosis. [PDF]

Rev Esp Quimioter
Muñoz-Echeverria L, Sánchez-Cano JG, Losa-García JE.   +2 more
europepmc   +1 more source

Economic Inequalities and Justice: Plato and Rawls [PDF]

, 2018
Santas, Gerasimos
core  

Pulmonary Involvement in Adult Patients with Inborn Errors of Metabolism [PDF]

, 2017
Christel Tran, Frédéric Barbey, Romain Lazor, Luisa Bonafé   +3 more
openalex   +1 more source

Whole Genome Sequencing in 25 Families with Suspected Inborn Errors of Immunity: Diagnostic Yield and Clinical Relevance of Genome-wide Analysis. [PDF]

J Clin Immunol
Lee JK, Jang JH, Kim DR, Shin A, Park JH, Kim YG, Kim JW, Kim YJ, Kang ES.   +8 more
europepmc   +1 more source