Results 111 to 120 of about 34,384 (251)

Congenital Coxa Vara, Patella Aplasia and Tarsal Synostosis: A New Inherited Syndrome [PDF]

, 1970
L. Goeminne, L. Dujardin
openalex   +1 more source

Radial aplasia with oligodactyly

Indian Journal of Human Genetics, 2008
Panigrahi, Inusha, Kulkarni, Ketan Prasad   +1 more
openaire   +3 more sources

New Pathogenic Variant in the GLI3 Gene in the First Colombian Patient Associated With Pallister‐Hall Syndrome: A Clinical Report

Molecular Genetics &Genomic Medicine, Volume 13, Issue 10, October 2025.
Pallister‐Hall syndrome: from phenotype to molecular diagnosis. ABSTRACT Background Pallister‐Hall syndrome (PHS) is an extremely rare genetic disorder. It presents as a polymalformative syndrome affecting craniofacial structures, the central nervous system, limbs, various internal organs, and the endocrine system.
Sebastián Bonilla‐Navarrete, Luis Eduardo Prieto, Laura Valentina Carvajal, Jorge Andrés Olave‐Rodríguez, Lisa Ximena Rodriguez‐Rojas, Jose Antonio Nastasi‐Catanese   +5 more
wiley   +1 more source

Non-progressive cerebellar ataxia, aplasia of pupillary zone of iris, and mental subnormality (Gillespie's syndrome) affecting 3 members of a non-consanguineous family in 2 generations. [PDF]

, 1979
M D Crawfurd, R B Harcourt, P A Shaw
openalex   +1 more source

The Development of a Dynamic Electronic Health Records Database for Childhood Cancer Survivors at a Single Institution: 30 Years of Data for Clinical and Research Applications

Pediatric Blood &Cancer, Volume 72, Issue 10, October 2025.
ABSTRACT Background/Purpose A customized Electronic Health Record (EHR)‐embedded database for a childhood cancer survivorship program has the potential to capture detailed patient, treatment, and late effects information to facilitate both clinical and research applications. Methods Epic EHR SmartForm fields were utilized to create and incorporate data
Ksenya Shliakhtsitsava, Rebecca Eary, Amy Hughes, Andrea C. Betts, Cindy Cochran, Debra Eshelman‐Kent, Stephanie Lawrence, Terri McCaskill, Cassie Packard, Daniel C. Bowers   +9 more
wiley   +1 more source

Bilateral maxillary sinus aplasia

Journal of Research in Medical Sciences, 2007
<p>Bilateral maxillary sinus aplasia is an extremely rare congenital anomaly. Only a few cases have been reported in the literature. We present a 24- year-old woman with bilateral maxillary sinus aplasia associated with the bilateral absence<br /
Seied Mehdi Sonbolestan, Seied Mohammad Javad Marashi, Hamed Abasi   +2 more
doaj  

Red cell aplasia following prolonged D-penicillamine therapy. [PDF]

, 1976
John L. Gollan, Samy Hussein, A. Victor Hoffbrand, Sheila Sherlock   +3 more
openalex   +1 more source

Pure Red Cell Aplasia and Thymoma: Loss of Serum Inhibitor of Erythropoiesis Following Thymectomy [PDF]

, 1971
Hamid Al‐Mondhiry, Esmail D. Zanjani, M. Spivack, Ralph Zalusky, Albert S. Gordon   +4 more
openalex   +1 more source

The Influence of the Introduction of Fetal Anomaly Scans on Pregnancy Terminations in Cases of Upper Limb Anomalies: A Retrospective Cohort Study From 2000 to 2023

Prenatal Diagnosis, Volume 45, Issue 11, Page 1450-1458, October 2025.
ABSTRACT Objective To examine the association between the introduction of the fetal anomaly scans in the Netherlands and termination of pregnancy (TOP) in cases of prenatally detected upper limb anomalies. Methods We conducted a retrospective study among prenatally detected upper limb anomalies between 2000 and 2023.
Arda Arduç, Eline Huiberts, Margriet H. M. van Doesburg, Ingeborg H. Linskens, Elisabeth van Leeuwen, Merel C. Van Maarle, Eva Pajkrt   +6 more
wiley   +1 more source

A Case of Red Cell Aplasia Occurring as a Result of Antituberculous Therapy

, 1964
Stephen B. Goodman, Matthew Block
openalex   +1 more source