Search Results - "Doherty ES"

A rare case of 2q37 deletion syndrome presented with patent foramen ovale.

Authors: Zaki, Ahmed Shaheen, Nour Hosny, Mohamed et al.

Source: Clinical Case Reports. Nov2023, Vol. 11 Issue 11, p1-4. 4p.

Single cell protein profiling of focal cortical dysplasia in a patient requiring multiple resections.

Authors: Elsayed NA Naftel RP Mobley BC et al.

Source: Acta neuropathologica communications [Acta Neuropathol Commun] 2026 Mar 13; Vol. 14 (1). Date of Electronic Publication: 2026 Mar 13.

Publication Type: Journal Article; Case Reports

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101610673 Publication Model: Electronic Cited Medium: Internet ISSN: 2051-5960 (Electronic) Linking ISSN: 20515960 NLM ISO Abbreviation: Acta Neuropathol Commun Subsets: MEDLINE

A Rare Case of Diffuse Intestinal Ganglioneuromatosis in a Child Presenting with Intussusception.

Authors: SEKARAN, ANURADHA PATIL, AMRUTA SHETTY, MAHESH et al.

Source: Journal of Clinical & Diagnostic Research. May2021, Vol. 15 Issue 5, p1-3. 3p.

The Spectrum of Pulmonary Malformation in Trisomy-21 Patient. A Review with Emphasis on the Molecular-Genetic Basis.

Authors: Salinas, Mark Elawabdeh, Nancy Lin, Jenny et al.

Source: Fetal & Pediatric Pathology. Feb2013, Vol. 32 Issue 1, p38-42. 5p. 2 Color Photographs.

Mesenchymal Tumors of the Tubular Gastrointestinal Tract (Non-GIST): The GI Pathologist's Approach.

Authors: Kővári BP Lauwers GY

Source: Advances in anatomic pathology [Adv Anat Pathol] 2025 Mar 01; Vol. 32 (2), pp. 110-131. Date of Electronic Publication: 2024 Nov 26.

Publication Type: Journal Article; Review

Journal Info: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 9435676 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1533-4031 (Electronic) Linking ISSN: 10724109 NLM ISO Abbreviation: Adv Anat Pathol Subsets: MEDLINE

NOVEL MITOCHONDRIAL DNA MUTATIONS ASSOCIATED WITH CHINESE FAMILIAL HYPERTROPHIC CARDIOMYOPATHY.

Authors: Wei, Yan-Ling Yu, Chang-An Yang, Peng et al.

Source: Clinical & Experimental Pharmacology & Physiology. Sep2009, Vol. 36 Issue 9, p933-939.

Clinico-radiological and molecular characterization of a child with ring chromosome 2 presenting growth failure, microcephaly, kidney and brain malformations.

Authors: Severino, Mariasavina Accogli, Andrea Gimelli, Giorgio et al.

Source: Molecular Cytogenetics (17558166). 2015, Vol. 8 Issue 1, p1-6. 6p.

The paradox of cancer genes in non-malignant conditions: implications for precision medicine.

Authors: Adashek, Jacob J. Kato, Shumei Lippman, Scott M. et al.

Source: Genome Medicine. 2/17/2020, Vol. 12 Issue 1, p1-19. 19p.

Precision Medicine: NMDA Receptor-Targeted Therapy for GRIN2D Encephalopathy.

Authors: Kearney, Jennifer A.

Source: Epilepsy Currents. Mar/Apr2017, Vol. 17 Issue 2, p112-114. 3p.

Hearing, Speech, Language, and Communicative Participation in Patients With Apert Syndrome: Analysis of Correlation With Fibroblast Growth Factor Receptor 2 Mutation.

Authors: Kilcoyne S Luscombe C Scully P et al.

Source: The Journal of craniofacial surgery [J Craniofac Surg] 2022 Jan-Feb 01; Vol. 33 (1), pp. 243-250.

Publication Type: Journal Article

Journal Info: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 9010410 Publication Model: Print Cited Medium: Internet ISSN: 1536-3732 (Electronic) Linking ISSN: 10492275 NLM ISO Abbreviation: J Craniofac Surg

EXPERT SUPPORT SYSTEMS: INTEGRATING AI TECHNOLOGIES.

Authors: El-Nnajdawi, M. K. Stylianou, Athony C.

Source: Communications of the ACM. Dec1993, Vol. 36 Issue 12, p55-103. 12p.

Subjects: Expert systems, Communication & technology, Artificial intelligence, Decision support systems, Management information systems, Problem solving

Mammalian Sterile20-like Kinases: Signalings and Roles in Central Nervous System.

Authors: Sheng Chen Yuanjian Fang Shenbin Xu et al.

Source: Aging & Disease. Jun2018, Vol. 9 Issue 3, p537-552. 16p.

Adrenal ganglioneuroma: Prognostic factors (Review).

Authors: Sandru, Florica Dumitrascu, Mihai Cristian Petca, Aida et al.

Source: Experimental & Therapeutic Medicine. Nov2021, Vol. 22 Issue 5, pN.PAG-N.PAG. 1p.

Craniosynostosis: prenatal diagnosis by 2D/3D ultrasound, magnetic resonance imaging and computed tomography.

Authors: Helfer, Talita Micheletti Peixoto, Alberto Borges Tonni, Gabriele et al.

Source: Medical Ultrasonography. Sep2016, Vol. 18 Issue 3, p378-385. 8p.

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Phenotypic variant of Brachydactyly-mental retardation syndrome in a family with an inherited interstitial 2q37.3 microdeletion including HDAC4.

Authors: Villavicencio-Lorini, Pablo Klopocki, Eva Trimborn, Marc et al.

Source: European Journal of Human Genetics. Jul2013, Vol. 21 Issue 7, p743-748. 6p. 1 Black and White Photograph, 1 Diagram, 1 Chart, 1 Graph.

The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients.

Authors: Leroy, Camille Landais, Emilie Briault, Sylvain et al.

Source: European Journal of Human Genetics. Jun2013, Vol. 21 Issue 6, p602-612. 11p. 1 Black and White Photograph, 1 Diagram, 4 Charts, 2 Graphs.

Craniosynostosis and Rare Craniofacial Clefts: Diagnosis, Treatment, and Outcomes

Authors: Justine C. Lee

Resource Type: eBook.

Subjects: Craniofacial dysostosis, Craniosynostoses

Categories: MEDICAL / Genetics

A Steminist Force: A Stem Picture Book for Girls.

Authors: Costa Treff, Dina¹

Source: Dimensions of Early Childhood. 2025, Vol. 53 Issue 1, p39-39. 1p.

Genetics of Nonsyndromic Craniosynostosis.

Authors: Timberlake AT Persing JA

Source: Plastic and reconstructive surgery [Plast Reconstr Surg] 2018 Jun; Vol. 141 (6), pp. 1508-1516.

Publication Type: Journal Article

Journal Info: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 1306050 Publication Model: Print Cited Medium: Internet ISSN: 1529-4242 (Electronic) Linking ISSN: 00321052 NLM ISO Abbreviation: Plast Reconstr Surg Subsets: MEDLINE