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Clinical Dysmorphology|March 6, 2023
The PHF21A neurodevelopmental disorder: an evaluation of clinical data from 13 patientsRebecca L Poole, Emilia K Bijlsma, Gunnar Houge, et al.Clinical Dysmorphology|August 14, 2024
Dilated aorta in CNOT3 -related neurodevelopmental disorder: 'expanding' the phenotypeSandra Hui Min Lau, Lim Jiin Ying, Chew Yin Jasmine Goh, et al.Clinical Dysmorphology|May 31, 2024
Silver-Russell syndrome-like features in a child with recombinant chromosome 11 derived from maternal pericentric inversionAbraham Urzua, Sofía Catena, Paulina Morales, et al.Clinical Dysmorphology|December 1, 2023
Comprehensive phenotyping of fetuses with trisomy 18: a perinatal center experienceMangalore S Shravya, Katta M Girisha, Shalini S NayakClinical Dysmorphology|August 30, 2023
Delineation of molecular characteristics of congenital myasthenic syndromes in Indian families and review of literatureShivani Mishra, Karthik Vijay Nair, Anju ShuklaClinical Dysmorphology|October 22, 2023
LPIN2 -related Majeed syndrome: report of two Indian patients with novel variants in LPIN2 and review of literatureVaishnavi Ashok Badiger, Suma Balan, Sumanth Madan, et al.Clinical Dysmorphology|March 12, 2026
Oculoskeletodental syndrome: expansion and review of the clinical and molecular phenotypeMaryam Al-Rashdi, Abir Al-Hadabi, Maha Mameesh, et al.Clinical Dysmorphology|July 19, 2003
Myhre syndrome: first female caseN O Dávalos, J E García-Ortiz, D García-Cruz, et al.Clinical Dysmorphology|April 1, 1994
Further observations on the Floating-Harbor syndromeR S Houlston, A L Collins, N R Dennis, et al.Clinical Dysmorphology|October 27, 2026
Mucopolysaccharidoses in Morocco: a 19-year retrospective study reveals a founder mutation in mucopolysaccharidosis type I and delineates the clinical spectrumAzzeddine Laaraje, Abdelilah Radi, Abdelhakim Ourrai, et al.Pageof 117