Search Results - "Multiple human abnormalities"

Understanding the Role of Genetic Testing in Diagnosing a Complex Pediatric Case.

Authors: Verdi, Giavanna Foksinska, Aleksandra Nichols, Elizabeth L. et al.

Source: Clinical Case Reports. Jun2026, Vol. 14 Issue 6, p1-5. 5p.

Help a teen who has an unusual shape.

Source: Week Junior (US Edition). 8/15/2025, Vol. 6 Issue 278, p22-22. 5/8p. 2 Color Photographs.

Understanding Aggression in SATB2‐Associated Syndrome: A Mixed‐Methods Study Exploring Caregiver Perspectives.

Authors: Shelley, Lauren Pearson, Effie Tarver, Joanne et al.

Source: Journal of Applied Research in Intellectual Disabilities. May2026, Vol. 39 Issue 3, p1-24. 24p.

Subjects: Attitudes toward illness, Data analysis, Research funding, Questionnaires, Interviewing, Content analysis, Chi-squared test, Aggression (Psychology), Research methodology, Statistics, Data analysis software, Comparative studies, Multiple human abnormalities, Caregiver attitudes, Disease complications

Radicular Aberrations of Mandibular Third Molars: Relevance for Oral Surgery—A Comprehensive Narrative Review.

Authors: Zaccheo, Fabrizio Petroni, Giulia Cicconetti, Andrea

Source: Applied Sciences (2076-3417); Dec2025, Vol. 15 Issue 23, p12756, 19p

Dextrocardia in Heterotaxy Syndrome (Polysplenia Variant) in a 36‐Year‐Old Ethiopian Woman: A Case Report and Literature Review.

Authors: Tukeni, Kedir Negesso Dekema, Ramadan Jemal Shukri, Mohammed Kedir et al.

Source: Case Reports in Cardiology. 6/18/2026, Vol. 2026, p1-7. 7p.

Novel variants in TUBB8 gene cause multiple phenotypic abnormalities in human oocytes and early embryos.

Authors: Hu, Tingwenyi Li, Chong Qiao, Sen et al.

Source: Journal of Ovarian Research. 11/25/2023, Vol. 16 Issue 1, p1-11. 11p.

Mancha mongólica aberrante y superpuesta en un recién nacido de raza negra.

Alternate Title: ABERRANT AND SUPERIMPOSED MONGOLIAN SPOT IN A BLACK NEWBORN.

Authors: Ocampo-Osorio, Geraldine Torres-Soto, Sneider Alexander

Source: Revista de la Asociación Colombiana de Dermatología y Cirugía Dermatológica. jul-sep2025, Vol. 33 Issue 3, p1-5. 5p.

Subjects: NEWBORN infants, PIGMENTATION disorders, CONGENITAL disorders, HYPERPIGMENTATION, SKIN discoloration, MULTIPLE human abnormalities

Individualizing rTMS in treatment-resistant depression from patient-specific perfusion abnormalities a proof-of-concept randomized trial in comparison to standard rTMS and tDCS.

Authors: Dormegny-Jeanjean, Ludovic C. de Crespin de Billy, Clément Pierrat, Camille et al.

Source: European Archives of Psychiatry & Clinical Neuroscience. Sep2025, Vol. 275 Issue 6, p1809-1825. 17p.

Subjects: Transcranial magnetic stimulation, Perfusion magnetic resonance imaging, Mental depression, Individualized medicine, Clinical trials, Brain imaging, Multiple human abnormalities, Cerebral circulation

Happle-Tinschert syndrome in an infant: clinical, radiologic and genetic correlation.

Authors: Rodríguez-Sánchez, Belén Narbona-Cárceles, Francisco Javier Martín-Nieto-González, Jorge et al.

Source: Clinical & Experimental Pediatrics. Feb2026, Vol. 69 Issue 2, p182-185. 4p.

"Continuously struggling for balance": The lived experiences of Dutch parents caring for children with profound intellectual and multiple disabilities.

Authors: Geuze, Liesbeth Goossensen, Anne Schrevel, Samuel

Source: Journal of Intellectual & Developmental Disability. Jun2023, Vol. 48 Issue 2, p161-171. 11p. 1 Chart.

Subjects: Health services accessibility, Parents of children with disabilities, Postural balance, Interviewing, Uncertainty, Experience, Parenting, Multiple human abnormalities, Qualitative research, Phenomenology, Psychosocial factors, Disabilities, Interpersonal relations, Assistive technology, Quality of life, Research funding, Parent-child relationships, Economic aspects of diseases, Intellectual disabilities

Geographic Terms: Netherlands

Multiple pterygium in Escobar syndrome: a scoping review for a personalized rehabilitative plan.

Authors: Cichelli, Alice Montemitro, Simona Federica Zotta, Donato Carlo et al.

Source: Egyptian Journal of Medical Human Genetics. 12/22/2025, Vol. 26 Issue 1, p1-10. 10p.

The prognostic impact of chromosome 7 with both arms loss [der(7)del(7p)del(7q)] in myelodysplastic syndrome/neoplasm.

Authors: Zhou, Ji Liu, Linlin Cui, Chenghua et al.

Source: Hematology. Dec2025, Vol. 30 Issue 1, p1-11. 11p.

In vivo modeling of lethal congenital contracture syndrome 1 suggests pathomechanisms in cellular stress responses.

Authors: Zárybnický, Tomáš Lindfors, Sonja Metso, Saana et al.

Source: FEBS Journal. Dec2025, Vol. 292 Issue 23, p6365-6399. 35p.

Severe developmental expressive language disorder due to a frameshift mutation in exon 18 of SRCAP gene, far away from the mutational hotspot in exons 33 and 34 associated to the Floating-Harbor syndrome.

Authors: Nogueira, Enrique Garma, Carmen Lobo, Concepción et al.

Source: Neurological Sciences. Oct2021, Vol. 42 Issue 10, p4349-4352. 4p. 1 Color Photograph, 2 Graphs.

Subjects: Genetic mutation, Sequence analysis, Craniofacial abnormalities, Adenosine triphosphatase, Multiple human abnormalities, Genes, Language disorders, Growth disorders, Ventricular septal defects

A 343 Italian cohort of patients analysed with array‐comparative genomic hybridization: unsolved problems and genetic counselling difficulties.

Authors: Palka Bayard de Volo, C. Alfonsi, M. Morizio, E. et al.

Source: Journal of Intellectual Disability Research. Sep2021, Vol. 65 Issue 9, p863-869. 7p. 1 Diagram, 5 Charts.

Subjects: Diagnosis of autism, Diagnosis of epilepsy, Genetic testing, Retrospective studies, Multiple human abnormalities, Chromosome abnormalities, Descriptive statistics, People with intellectual disabilities, Cytogenetics, Oligonucleotide arrays, Phenotypes, Longitudinal method

Geographic Terms: Italy

Wernicke Encephalopathy in schizophrenia: a systematic review.

Authors: Oudman, Erik Wijnia, Jan W. Oey, Misha J. et al.

Source: International Journal of Psychiatry in Clinical Practice. Sep2021, Vol. 25 Issue 3, p233-237. 5p.

Subjects: Online information services, Schizophrenia, Systematic reviews, Wernicke's encephalopathy, Multiple human abnormalities, Dietary supplements, Terms & phrases, Psychosocial factors, Weight loss, MEDLINE, Vitamin B1, Ataxia, Disease risk factors

Thyrotoxic Periodic Paralysis: A Case Report and Literature Review.

Authors: Patel, Matthew Ladak, Karim

Source: Clinical Medicine & Research. Sep2021, Vol. 19 Issue 3, p148-151. 4p.

Cranial neuroimaging: Incidental findings and their significance.

Authors: RAJKUMAR, VIJIDHA SHREE JOHNSON, LIAM OWLER, BRIAN K.

Source: Medicine Today. Oct2025, Vol. 26 Issue 10, p12-17. 7p.

This result is not displayed to guests.
Login for full access.

This result is not displayed to guests.
Login for full access.