Search Results - "Stark Z"

Validation and Reliability of the Dyslexia Adult Checklist in Screening for Dyslexia.

Authors: Stark, Z. Elalouf, K. Soldano, V. et al.

Source: Dyslexia (10769242). Feb2025, Vol. 31 Issue 1, p1-14. 14p.

Subjects: Learning disabilities, Medical scientists, Dyslexia, Word recognition, Medical screening

Two novel germline KRAS mutations: expanding the molecular and clinical phenotype.

Authors: Stark, Z Gillessen-Kaesbach, G Ryan, MM et al.

Source: Clinical Genetics. Jun2012, Vol. 81 Issue 6, p590-594. 5p. 1 Black and White Photograph, 1 Diagram.

Partial hydatidiform mole following intracytoplasmic sperm injection and transfer of a cryopreserved-thawed blastocyst.

Authors: May, J Stark, Z Thomas, P

Source: Journal of Obstetrics & Gynaecology. Apr2015, Vol. 35 Issue 3, p320-321. 2p.

Parentage determination: a medical responsibility?

Authors: Stark, Z Delatycki, M B

Source: Journal of Medical Ethics. Jun2014, Vol. 40 Issue 6, p387-388. 2p.

Osteopetrosis.

Authors: Stark Z Savarirayan R Stark, Zornitza et al.

Source: Orphanet Journal of Rare Diseases. 2009, Vol. 4, p5-5. 1p.

Axenfeld-Rieger syndrome as rare cause of umbilical abnormality.

Authors: Ali, Z. Charan, P. Said, J. M. et al.

Source: Ultrasound in Obstetrics & Gynecology. Aug2019, Vol. 54 Issue 2, p276-277. 2p.

P.180 - Severe autosomal recessive congenital hypomyelinating neuropathy causing death in the first four months of life.

Authors: Cabrera, M. Ravenscroft, G. Andersen, E. et al.

Source: Neuromuscular Disorders. Oct2016 Supplement 2, Vol. 26, pS140-S141. 1p.

KCNQ2 neonatal epilepsy: Impact of prompt diagnosis and treatment, and early predictors of outcome severity.

Authors: Jadhav T Bouffler SE Innes E et al.

Source: Epilepsia open [Epilepsia Open] 2026 Jun; Vol. 11 (3), pp. 949-961. Date of Electronic Publication: 2026 May 04.

Publication Type: Journal Article; Multicenter Study

Journal Info: Publisher: John Wiley & Sons, Inc Country of Publication: United States NLM ID: 101692036 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2470-9239 (Electronic) Linking ISSN: 24709239 NLM ISO Abbreviation: Epilepsia Open Subsets: MEDLINE

Supporting decisions about genomic newborn screening at scale in the digital age: the BabyScreen+ study.

Authors: Downie L Caruana J Kugenthiran N et al.

Source: NPJ genomic medicine [NPJ Genom Med] 2026 Feb 14; Vol. 11 (1). Date of Electronic Publication: 2026 Feb 14.

Publication Type: Journal Article

Journal Info: Publisher: Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University Country of Publication: England NLM ID: 101685193 Publication Model: Electronic Cited Medium: Internet ISSN: 2056-7944 (Electronic) Linking ISSN: 20567944 NLM ISO Abbreviation: NPJ Genom Med Subsets: PubMed not MEDLINE

How parents decide whether to have genomic newborn screening: experiences from BabyScreen.

Authors: Kanga-Parabia A Tutty E Kugenthiran N et al.

Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2026 Jun 26. Date of Electronic Publication: 2026 Jun 26.

Publication Type: Journal Article

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

Automated reanalysis of genomic data for rare disease diagnostics at scale.

Authors: Welland MJ Ahlquist KD De Fazio P et al.

Source: Nature medicine [Nat Med] 2026 Jun 24. Date of Electronic Publication: 2026 Jun 24.

Publication Type: Journal Article

Journal Info: Publisher: Nature Publishing Company Country of Publication: United States NLM ID: 9502015 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-170X (Electronic) Linking ISSN: 10788956 NLM ISO Abbreviation: Nat Med Subsets: MEDLINE

Pathological disruption of CELF2 shuttling causes neuronal hyperactivity, learning deficits, and seizures.

Authors: Hua M Aghanoori MR MacPherson MJ et al.

Source: The Journal of clinical investigation [J Clin Invest] 2026 Jun 11. Date of Electronic Publication: 2026 Jun 11.

Publication Type: Journal Article

Journal Info: Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1558-8238 (Electronic) Linking ISSN: 00219738 NLM ISO Abbreviation: J Clin Invest Subsets: MEDLINE

Health economic evaluations of genomic newborn screening: Approaches by studies within the international consortium on newborn sequencing.

Authors: Smith HS Vu M Dangouloff T et al.

Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2026 Jun 04. Date of Electronic Publication: 2026 Jun 04.

Publication Type: Journal Article

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

Monoallelic PSMB8 variants cause PRAAS with immunodeficiency through impaired immunoproteasome assembly.

Authors: Wijngaard R van der Made CI Kalkan Uçar S et al.

Corporate Authors: Wijngaard R van der Made CI Kalkan Uçar S et al.

Source: American journal of human genetics [Am J Hum Genet] 2026 Jun 04; Vol. 113 (6), pp. 1214-1232. Date of Electronic Publication: 2026 May 21.

Publication Type: Journal Article

Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

Automating genomic reanalysis: perspectives of people living with, or impacted by, a genetic, rare or undiagnosed condition.

Authors: Lynch F King E Nona S et al.

Source: BMC medical ethics [BMC Med Ethics] 2026 May 28. Date of Electronic Publication: 2026 May 28.

Publication Type: Journal Article

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101088680 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1472-6939 (Electronic) Linking ISSN: 14726939 NLM ISO Abbreviation: BMC Med Ethics Subsets: MEDLINE

Gene-disease relationships for glomerular phenotypes: expert recommendations from ClinGen.

Authors: Byrne AB Li AS Chung EYM et al.

Corporate Authors: Byrne AB Li AS Chung EYM et al.

Source: Nature reviews. Nephrology [Nat Rev Nephrol] 2026 May 21. Date of Electronic Publication: 2026 May 21.

Publication Type: Journal Article; Review

Journal Info: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101500081 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1759-507X (Electronic) Linking ISSN: 17595061 NLM ISO Abbreviation: Nat Rev Nephrol Subsets: MEDLINE

Genomic newborn screening: a scoping review of the field's evolution and associated ethical, legal, and social implications.

Authors: Brown GL Walker L Afolabi MA et al.

Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2026 May 08. Date of Electronic Publication: 2026 May 08.

Publication Type: Journal Article

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

Mainstreaming genomic testing for mitochondrial disease in Australia.

Authors: Ball M Baker N Lim SC et al.

Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2026 May; Vol. 34 (5), pp. 658-666. Date of Electronic Publication: 2026 Feb 26.

Publication Type: Journal Article

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

Impact of a digital platform on genetic counselling encounters in the screening context.

Authors: Mighton C Jan A Lee L et al.

Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2026 May; Vol. 34 (5), pp. 715-722. Date of Electronic Publication: 2026 Feb 13.

Publication Type: Journal Article

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

Childhood motor speech disorders: who to prioritise for genetic testing.

Authors: Van Niel H Lauretta M Baker E et al.

Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2026 May; Vol. 34 (5), pp. 639-648. Date of Electronic Publication: 2026 Jan 13.

Publication Type: Journal Article

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE