Results 141 to 150 of about 10,092 (250)

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, Volume 200, Issue 8, Page 1783-1798, August 2026.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source

Frequency-comb-steered ultrawideband quasi-true-time-delay beamformer for integrated sensing and communication. [PDF]

Nat Commun
Wang M, Zhang W, Ren Z, Li S, Zheng X, Xue X.   +5 more
europepmc   +1 more source

De Novo Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype–Phenotype Correlation and Development of a CGR Detection Pipeline

American Journal of Medical Genetics Part A, Volume 200, Issue 8, Page 1832-1841, August 2026.
ABSTRACT The 2q31 region is commonly associated with pathogenic alleles of the HOXD cluster leading to various clinical phenotypes related to skeletal development. We present a proband with tetralogy of Fallot and multiple congenital anomalies. Genomic variant screening including an in‐house CGR detection pipeline pairing genome sequencing (GS ...
Katherine Helle, Jesse D. Bengtsson, Mira Gandhi, Christopher M. Grochowski, Ming Yin Lun, Neha Sudhir, Shalini N. Jhangiani, Fritz J. Sedlazeck, Seema R. Lalani, Neil A. Hanchard, Claudia M. B. Carvalho   +10 more
wiley   +1 more source

Meningococcal Meningitis Complicated by Cerebral Venous Sinus Thrombosis Presenting as Pseudo-Subarachnoid Hemorrhage in a Toddler: A Case Report. [PDF]

Cureus
Altelly A, Al-Dahash K, Hamed H, Elkafafi M, Phatak R.   +4 more
europepmc   +1 more source

Regression, Ataxia, and Nystagmus in a Toddler: Unraveling a Rare Neurodegenerative Disorder

Clinical Case Reports, Volume 14, Issue 8, August 2026.
ABSTRACT Infantile neuroaxonal dystrophy (INAD) should be considered in any toddler presenting with psychomotor regression and cerebellar atrophy, even when basal ganglia iron deposition is absent on initial MRI. Molecular genetic testing of PLA2G6 is essential for definitive diagnosis, enabling accurate genetic counseling and timely multidisciplinary ...
K. Venkataramana Reddy, Agasthya Daggu, Sumanth Reddy Mudiyala, Siddartha Reddy Gangapuram, M. Geethika, Lakshya Nehal Samineni   +5 more
wiley   +1 more source

Model-Data Hybrid-Driven Wideband Channel Estimation for Beamspace Massive MIMO Systems. [PDF]

Entropy (Basel)
Nie Y, Ma Z, Jing L.
europepmc   +1 more source

Epilepsy characteristics in patients with muscle‐eye‐brain disease: A systematic review of electroclinical features

Epileptic Disorders, Volume 28, Issue 4, Page 1007-1020, August 2026.
Abstract Background and Objectives Muscle‐Eye‐Brain disease (MEB) is a dystroglycanopathy that belongs to the congenital muscular dystrophies. Central nervous system manifestations include congenital brain abnormalities, neurodevelopmental delay, and epilepsy, making it a rare but important cause of developmental and epileptic encephalopathy.
Stefania Kalampokini, Evripidis Pityrigkas, Eleni Liouta, Georgia Pepe, Vasiliki Poulidou, Martha Spilioti, Vasilios K. Kimiskidis   +6 more
wiley   +1 more source

The Regulation of Squint Training [PDF]

Clinical and Experimental Optometry, 1935
openaire   +2 more sources

Motorized semi-automated prism bar technique for enhanced prismatic evaluation. [PDF]

Indian J Ophthalmol
Suresh G, Srinivasan M, Muthukumar B, Meenakshi N, Rajesh H.   +4 more
europepmc   +1 more source

Real‐world‐data for phenotypes and genotypes of rare monogenic genetic epilepsies and genes of uncertain significance for epilepsy

Epilepsia Open, Volume 11, Issue 4, Page 1184-1199, August 2026.
Abstract Objectives The objectives of this study were to develop a real‐world‐data (RWD) database for patients with epilepsy to provide further real‐world‐evidence (RWE) for monogenic genetic epilepsies; to assess the usefulness of a diagnostic algorithm in epilepsy; and to examine protein 3D structures using in silico tools to predict variant ...
Haley Morris, Elizabeth Mathew, Shalini Bahl, Marta Villa‐Lopez, Saadet Mercimek‐Andrews   +4 more
wiley   +1 more source