Search Results - "Freckmann ML"

4号环状染色体致成年男性生育障碍一例.

Alternate Title: A Case of Adult Male Fertility Disorder Caused by Ring Chromosome 4.

Authors: 李稳安 付胜蓝 范文 et al.

Source: Journal of International Reproductive Health/Family Planning. 2025, Vol. 44 Issue 6, p464-467. 4p.

Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseases.

Authors: Hock DH Caruana NJ Semcesen LN et al.

Corporate Authors: Hock DH Caruana NJ Semcesen LN et al.

Source: Genome medicine [Genome Med] 2025 May 22; Vol. 17 (1), pp. 58. Date of Electronic Publication: 2025 May 22.

Publication Type: Journal Article; Research Support, U.S. Gov't, Non-P.H.S.; Research Support, Non-U.S. Gov't

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101475844 Publication Model: Electronic Cited Medium: Internet ISSN: 1756-994X (Electronic) Linking ISSN: 1756994X NLM ISO Abbreviation: Genome Med Subsets: MEDLINE

Genomic exploration of pediatric neurological disorders: a case series.

Authors: Tayade, Naresh Manoj, Gautham Kewat, Akshay et al.

Source: Journal of Medical Case Reports. 1/31/2025, Vol. 19 Issue 1, p1-7. 7p.

Adult-Onset Bilateral Optic Neuropathy in a Patient with Non-Familial Childhood-Onset Generalized Dystonia Associated with Mitochondrial DNA 14459G>A Mutation: A Case Report and Review of Literature.

Authors: Thaller, M. Samra, A. P. Chaudhary, U. J. et al.

Source: Neuro-Ophthalmology. Jun2025, Vol. 49 Issue 3, p206-211. 6p.

Critically unwell infants and children with mitochondrial disorders diagnosed by ultrarapid genomic sequencing.

Authors: Ball M Bouffler SE Barnett CB et al.

Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2025 Jan; Vol. 27 (1), pp. 101293. Date of Electronic Publication: 2024 Oct 15.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

Unveiling the complexity of neurofibromatosis type 1: Innovations in genetic understanding and clinical management. A narrative review.

Authors: Jurca A Pop S Jurca CM et al.

Source: Biomedical papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia [Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub] 2025 Dec; Vol. 169 (4), pp. 255-261. Date of Electronic Publication: 2025 Apr 14.

Publication Type: Journal Article; Review

Journal Info: Publisher: Vydavatelství Univerzity Palackého Country of Publication: Czech Republic NLM ID: 101140142 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1804-7521 (Electronic) Linking ISSN: 12138118 NLM ISO Abbreviation: Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub Subsets: MEDLINE

Intestinal malrotation in a female newborn affected by Osteopathia Striata with Cranial Sclerosis due to a de novo heterozygous nonsense mutation of the AMER1 gene.

Authors: Serra, Gregorio Antona, Vincenzo Di Pace, Maria Rita et al.

Source: Italian Journal of Pediatrics. 12/29/2022, Vol. 48 Issue 1, p1-7. 7p.

Integrative multi-omics analyses reveal nuclear noncoding RNA-mediated regulatory landscape in Alzheimer's disease.

Authors: Yang S Kim SH Choi J et al.

Source: Archives of pharmacal research [Arch Pharm Res] 2026 Jul; Vol. 49 (7), pp. 987-1006. Date of Electronic Publication: 2026 Jul 11.

Publication Type: Journal Article

Journal Info: Publisher: Pharmaceutical Society of Korea Country of Publication: Korea (South) NLM ID: 8000036 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1976-3786 (Electronic) Linking ISSN: 02536269 NLM ISO Abbreviation: Arch Pharm Res Subsets: MEDLINE

The power of mouse models in the diagnostic odyssey of patients with rare congenital anomalies.

Authors: Twigg, Stephen R. F. Greene, Nicholas D. E. Henderson, Deborah J. et al.

Source: Mammalian Genome. Jun2025, Vol. 36 Issue 2, p354-362. 9p.

Clinical and molecular analysis of four unrelated Chinese families with pathogenic KLHL40 variants causing nemaline myopathy 8.

Authors: Yuan, Haiming Wang, Qingming Zeng, Xiumei et al.

Source: Orphanet Journal of Rare Diseases. 4/4/2022, Vol. 17 Issue 1, p1-7. 7p.

Genetic resiliency associated with dominant lethal TPM1 mutation causing atrial septal defect with high heritability.

Authors: Teekakirikul P Zhu W Xu X et al.

Source: Cell reports. Medicine [Cell Rep Med] 2022 Feb 15; Vol. 3 (2), pp. 100501. Date of Electronic Publication: 2022 Feb 15 (Print Publication: 2022).

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 101766894 Publication Model: eCollection Cited Medium: Internet ISSN: 2666-3791 (Electronic) Linking ISSN: 26663791 NLM ISO Abbreviation: Cell Rep Med Subsets: MEDLINE

Atypical deletion of Williams–Beuren syndrome reveals the mechanism of neurodevelopmental disorders.

Authors: Zhou, Jianrong Zheng, Ying Liang, Guiying et al.

Source: BMC Medical Genomics. 10/21/2022, Vol. 15, p1-10. 10p.

The spectrum of pathogenic NF1 variants in participants enrolling on clinical trials of MEK inhibitors for plexiform neurofibroma.

Authors: Kotch C Gomes A Schatz KS et al.

Source: Human genetics [Hum Genet] 2025 Dec; Vol. 144 (11-12), pp. 1199-1206. Date of Electronic Publication: 2025 Oct 15.

Publication Type: Journal Article; Multicenter Study

Journal Info: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE

From Data to Cure: A Comprehensive Exploration of Multi-omics Data Analysis for Targeted Therapies.

Authors: Mukherjee, Arnab Abraham, Suzanna Singh, Akshita et al.

Source: Molecular Biotechnology. Apr2025, Vol. 67 Issue 4, p1269-1289. 21p.

Hirschsprung Disease in Jordan: A Review and Status Update.

Alternate Title: مرض هيرشسبرنغ: مراجعة وتحديث الحالة في الأردن.

Authors: Shahatit, Shadi Alkhateeb, Asem M.

Source: Jordan Medical Journal. Jun2024, Vol. 58 Issue 2, p194-203. 10p.

Explaining Alport syndrome—lessons from the adult nephrology clinic.

Authors: Mabillard, Holly Ryan, Rebecca Tzoumas, Nik et al.

Source: Journal of Rare Diseases. 5/13/2024, Vol. 3 Issue 1, p1-26. 26p.

Cauli: a mouse strain with an Ift140 mutation that results in a skeletal ciliopathy modelling Jeune syndrome.

Authors: Miller KA Ah-Cann CJ Welfare MF et al.

Source: PLoS genetics [PLoS Genet] 2013 Aug; Vol. 9 (8), pp. e1003746. Date of Electronic Publication: 2013 Aug 29.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101239074 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1553-7404 (Electronic) Linking ISSN: 15537390 NLM ISO Abbreviation: PLoS Genet Subsets: MEDLINE

Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes.

Authors: Yap, Zheng Yie Park, Yo Han Wortmann, Saskia B. et al.

Source: Genome Medicine. 4/12/2021, Vol. 13 Issue 1, p1-21. 21p.

Clinical exome sequencing in neuromuscular diseases: an experience from Turkey.

Authors: Börklü-Yücel, Esra Demiriz, Çiğdem Avcı, Şahin et al.

Source: Neurological Sciences. Aug2020, Vol. 41 Issue 8, p2157-2164. 8p. 1 Graph.

Subjects: Neuromuscular diseases, Muscular dystrophy, Nucleotide sequencing, Genetic disorders, Diagnosis

Geographic Terms: Turkey

Reconstitution, characterization, and [2Fe–2S] cluster exchange reactivity of a holo human BOLA3 homodimer.

Authors: Wachnowsky, Christine Rao, Brian Sen, Sambuddha et al.

Source: Journal of Biological Inorganic Chemistry (JBIC). Oct2019, Vol. 24 Issue 7, p1035-1045. 11p.