Found: 715
Select item for more details and to access through your institution.
Genetic and phenotypic landscape of pediatric‐onset epilepsy in 142 Indian families: Counseling and therapeutic implications.
- Published in:
- Clinical Genetics, 2024, v. 105, n. 6, p. 639, doi. 10.1111/cge.14495
- By:
- Publication type:
- Article
Four Unique Genetic Variants in Three Genes Account for 62.7% of Early-Onset Severe Retinal Dystrophy in Chile: Diagnostic and Therapeutic Consequences.
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 11, p. 6151, doi. 10.3390/ijms25116151
- By:
- Publication type:
- Article
Li-Fraumeni Syndrome With Six Primary Tumors—Case Report.
- Published in:
- 2024
- By:
- Publication type:
- Case Study
(122) RIGHTS-BASED REPRODUCTIVE SERVICES IN THE MEDICAL SCHOOLS IN THREE STATES IN INDIA: BASELINE FINDINGS OF A MIXED METHODS IMPLEMENTATION RESEARCH.
- Published in:
- 2024
- By:
- Publication type:
- Abstract
The power of "it will be okay".
- Published in:
- Pediatric Transplantation, 2024, v. 28, n. 3, p. 1, doi. 10.1111/petr.14710
- By:
- Publication type:
- Article
Clinical value of Alzheimer's disease biomarker testing.
- Published in:
- Alzheimer's & Dementia: Translational Research & Clinical Interventions, 2024, v. 10, n. 2, p. 1, doi. 10.1002/trc2.12464
- By:
- Publication type:
- Article
Predicting Health-Related Quality of Life Outcomes Following Major Scoliosis Surgery in Adolescents: A Latent Class Growth Analysis.
- Published in:
- Global Spine Journal, 2024, v. 14, n. 3, p. 902, doi. 10.1177/21925682221126451
- By:
- Publication type:
- Article
Novel PIP5K1C variant identified in a Chinese pedigree with lethal congenital contractural syndrome 3.
- Published in:
- BMC Pediatrics, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12887-024-04674-6
- By:
- Publication type:
- Article
Identified PAH V230A and PAH V230I mutations in a family with diverse clinical presentations.
- Published in:
- 2024
- By:
- Publication type:
- Case Study
Second Trimester Spontaneous Fundal Rupture of Unscarred Bicornuate Uterus in Primipara: A Case Report and Literature Review; Jigjiga University Sheik Hassen Yabare Comprehensive Specialized Hospital, Jigjiga, Ethiopia.
- Published in:
- 2024
- By:
- Publication type:
- Case Study
Functional assessment of a novel biallelic MYH3 variation causing CPSKF1B (contractures, pterygia, and spondylocarpotarsal fusion syndrome1B).
- Published in:
- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 3, p. 1, doi. 10.1002/mgg3.2401
- By:
- Publication type:
- Article
Urticaria in infants: A single‐institution retrospective study.
- Published in:
- Pediatric Dermatology, 2024, v. 41, n. 2, p. 260, doi. 10.1111/pde.15519
- By:
- Publication type:
- Article
Genetic Information to Share with Parents when Newborn Screening Reveals the Presence of Sickle Cell Trait.
- Published in:
- International Journal of Pediatrics, 2024, v. 2024, p. 1, doi. 10.1155/2024/8910397
- By:
- Publication type:
- Article
Modifications of habit breaking appliances: A review.
- Published in:
- 2024
- By:
- Publication type:
- Case Study
Human Reproduction and Disturbed Genomic Imprinting.
- Published in:
- Genes, 2024, v. 15, n. 2, p. 163, doi. 10.3390/genes15020163
- By:
- Publication type:
- Article
Exploring Female Relatives of Patients with Hemophilia' Awareness, Attitudes, and Understanding Towards Genetic Testing [Letter].
- Published in:
- Journal of Multidisciplinary Healthcare, 2024, v. 17, p. 879, doi. 10.2147/JMDH.S464878
- By:
- Publication type:
- Article
Surgical Outcomes by Early Airway Endoscopy Findings after Pediatric Staged Laryngotracheoplasty.
- Published in:
- Laryngoscope, 2024, v. 134, n. 2, p. 963, doi. 10.1002/lary.30875
- By:
- Publication type:
- Article
Male with an apparently normal phenotype carrying a BRCA1 exon 20 duplication in trans to a BRCA1 frameshift variant.
- Published in:
- Breast Cancer Research, 2024, v. 26, n. 1, p. 1, doi. 10.1186/s13058-023-01755-9
- By:
- Publication type:
- Article
Clinical Exome Sequencing in Syndromic Epilepsy Patients Evaluation of Analysis Results.
- Published in:
- Gazi Medical Journal, 2024, v. 35, p. 44
- By:
- Publication type:
- Article
Prospective evaluation of NGS-based sequencing in epilepsy patients: results of seven NASGE-associated diagnostic laboratories.
- Published in:
- Frontiers in Neurology, 2023, p. 1, doi. 10.3389/fneur.2023.1276238
- By:
- Publication type:
- Article
Fibronectin glomerulopathy in a kidney allograft biopsy.
- Published in:
- 2023
- By:
- Publication type:
- Case Study
Sequence variants in different genes underlying Bardet-Biedl syndrome in four consanguineous families.
- Published in:
- Molecular Biology Reports, 2023, v. 50, n. 12, p. 9963, doi. 10.1007/s11033-023-08816-4
- By:
- Publication type:
- Article
Development of a prediction nomogram model of recurrent febrile seizures in pediatric children.
- Published in:
- European Journal of Pediatrics, 2023, v. 182, n. 11, p. 4875, doi. 10.1007/s00431-023-05133-7
- By:
- Publication type:
- Article
Clinical, Immunological, and Genetic Findings in Iranian Patients with MHC-II Deficiency: Confirmation of c.162delG RFXANK Founder Mutation in the Iranian Population.
- Published in:
- Journal of Clinical Immunology, 2023, v. 43, n. 8, p. 1941, doi. 10.1007/s10875-023-01562-z
- By:
- Publication type:
- Article
Identification of variants in genes associated with hypertrophic cardiomyopathy in Mexican patients.
- Published in:
- Molecular Genetics & Genomics, 2023, v. 298, n. 6, p. 1289, doi. 10.1007/s00438-023-02048-8
- By:
- Publication type:
- Article
Identification of the genetic basis of pediatric neurogenetic disorders at a tertiary referral hospital in Indonesia: Contribution of whole exome sequencing.
- Published in:
- PLoS ONE, 2023, v. 18, n. 10, p. 1, doi. 10.1371/journal.pone.0293113
- By:
- Publication type:
- Article
Development of a brief screening instrument for problem gambling.
- Published in:
- Journal of Behavioral Addictions, 2023, v. 12, p. 215
- By:
- Publication type:
- Article
AN EXAMINATION OF VIRGINIA SATIR'S CONCEPT OF SELF-WORTH.
- Published in:
- International Journal of Eurasian Education & Culture, 2023, v. 8, n. 23, p. 2873, doi. 10.35826/ijoecc.796
- By:
- Publication type:
- Article
A Family Within Our “Family”: For NACAC member Mike Konopski, college admission counseling is a family affair.
- Published in:
- Journal of College Admission, 2023, n. 260, p. 48
- By:
- Publication type:
- Article
EBEVEYNLERİN OTİZM GÜNDÜZ BAKIM REHABİLİTASYON VE AİLE DANIŞMANLIĞI MERKEZLERİNDEN ALDIKLARI HİZMETLERE İLİŞKİN GÖRÜŞLERİNİN İNCELENMESİ.
- Published in:
- Journal of Social Policy Studies / Sosyal Politika Çalismalari Dergisi, 2023, v. 23, n. 61, p. 833, doi. 10.21560/spcd.vi.1230623
- By:
- Publication type:
- Article
Personal autonomy in students with visual disabilities from the family counseling process.
- Published in:
- Mendive - Revista de Educacion, 2023, v. 21, n. 4, p. 1
- By:
- Publication type:
- Article
Determination of The GALT Gene in Galactosemic Cataract Patients in Azerbaijan.
- Published in:
- Journal of Advanced Zoology, 2023, v. 44, p. 1538, doi. 10.17762/jaz.v44is-5.1344
- By:
- Publication type:
- Article
First Report of a Low-Frequency Mosaic Mutation in the Hydroxymethylbilane Synthase Gene Causing Acute Intermittent Porphyria.
- Published in:
- Life (2075-1729), 2023, v. 13, n. 9, p. 1889, doi. 10.3390/life13091889
- By:
- Publication type:
- Article
Hereditary Antithrombin Deficiency Presenting with Cerebral Venous Thrombosis in Three Members of a Family.
- Published in:
- Neurology India, 2023, v. 71, n. 5, p. 984, doi. 10.4103/0028-3886.388110
- By:
- Publication type:
- Article
Cutis marmorata telangiectatica congenita: Incidence of extracutaneous manifestations and a proposed clinical definition.
- Published in:
- Pediatric Dermatology, 2023, v. 40, n. 5, p. 820, doi. 10.1111/pde.15377
- By:
- Publication type:
- Article
Adult-onset leukodystrophies: a practical guide, recent treatment updates, and future directions.
- Published in:
- Frontiers in Neurology, 2023, p. 1, doi. 10.3389/fneur.2023.1219324
- By:
- Publication type:
- Article
Rare IFT140-Associated Phenotype of Cranioectodermal Dysplasia and Features of Diagnostic Journey in Patients with Suspected Ciliopathies.
- Published in:
- Genes, 2023, v. 14, n. 8, p. 1553, doi. 10.3390/genes14081553
- By:
- Publication type:
- Article
Clinical application of recommendations for neurobehavioral assessment in disorders of consciousness: an interdisciplinary approach.
- Published in:
- Frontiers in Human Neuroscience, 2023, p. 1, doi. 10.3389/fnhum.2023.1129466
- By:
- Publication type:
- Article
The novel compound heterozygous variants identified in a Chinese family with glucose phosphate isomerase deficiency and pathogenicity analysis.
- Published in:
- BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01603-x
- By:
- Publication type:
- Article
Contextual factors affecting the implementation of an anemia focused virtual counseling intervention for pregnant women in plains Nepal: a mixed methods process evaluation.
- Published in:
- BMC Public Health, 2023, v. 23, n. 1, p. 1, doi. 10.1186/s12889-023-16195-5
- By:
- Publication type:
- Article
Różnorodność metod i technik wykorzystywanych w pracy z dziećmi i młodzieżą oraz ich rodzicami w poradnictwie rodzinnym.
- Published in:
- Family Upbringing / Wychowanie w Rodzinie, 2023, v. 30, n. 3, p. 255
- By:
- Publication type:
- Article
How can counselling by family physicians on nutrition and physical activity be improved: trends from a survey in Germany.
- Published in:
- Journal of Cancer Research & Clinical Oncology, 2023, v. 149, n. 7, p. 3335, doi. 10.1007/s00432-022-04233-5
- By:
- Publication type:
- Article
Educational Needs of Iranian Rural Librarians: An Exploratory Study.
- Published in:
- Journal of Education for Library & Information Science, 2023, v. 64, n. 3, p. 348, doi. 10.3138/jelis-2022-0026
- By:
- Publication type:
- Article
Structured Immune Workup in Healthy Children With a First Episode of Severe Bacterial Infection: A 7-year Single-Center Study.
- Published in:
- Journal of Infectious Diseases, 2023, v. 228, n. 1, p. 8, doi. 10.1093/infdis/jiad098
- By:
- Publication type:
- Article
Whole exome sequencing reveals a missense mutation in the ADA gene causing severe combined immune deficiency in a Pakistani family.
- Published in:
- Journal of University Medical & Dental College, 2023, v. 14, n. 3, p. 635, doi. 10.37723/jumdc.v14i3.859
- By:
- Publication type:
- Article
Assessment of a novel variation in DHODH gene causing Miller syndrome: The first report in Chinese population.
- Published in:
- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 7, p. 1, doi. 10.1002/mgg3.2186
- By:
- Publication type:
- Article
Maneviyat Yönelimli Aile Danışmanlığı Bağlamında Rûm Sûresi 21. Âyet Üzerine Bir Değerlendirme.
- Published in:
- Turkey Journal of Theological Studies, 2023, v. 7, n. 3, p. 560, doi. 10.32711/tiad.1287003
- By:
- Publication type:
- Article
Determinants and prevalence of modern contraceptive use among sexually active female youth in the Berekum East Municipality, Ghana.
- Published in:
- PLoS ONE, 2023, v. 17, n. 6, p. 1, doi. 10.1371/journal.pone.0286585
- By:
- Publication type:
- Article
مركز االستذارات األسرية: الهاقع والمأمهل دراسة ميدانية في كمينك االستذارات األسرية في مدينة الدميمانية.
- Published in:
- Al-Adab / Al-ādāb, 2023, v. 145, p. 201, doi. 10.31973/aj.v1i145.3860
- By:
- Publication type:
- Article
Initial Counseling Prior to Palliation for Hypoplastic Left Heart Syndrome: 2021 vs 2011.
- Published in:
- Pediatric Cardiology, 2023, v. 44, n. 5, p. 1118, doi. 10.1007/s00246-023-03170-5
- By:
- Publication type:
- Article