Congenital Glaucoma: a Novel Ocular Manifestation of Hajdu-Cheney Syndrome by L. Swan, G. Gole, V. Sabesan, J. Cardinal, D. Coman

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PWS/AS MS-MLPA Confirms Maternal Origin of 15q11.2 Microduplication by Angelika J. Dawson, Janice Cox, Karine Hovanes, Elizabeth Spriggs

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Comparison of the Effects of Alcohol and Phenol Used for Celiac Neurolysis with Endoscopic Ultrasound in Patients with Pancreas Cancer: Retrospective Analysis by Birzat Emre Gölboyu, Uğur Özgürbüz

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A Tanzanian Boy with Molecularly Confirmed X-Linked Adrenoleukodystrophy by M. C. J. Dekker, A. M. Sadiq, R. Mc Larty, R. M. Mbwasi, M. A. A. P. Willemsen, H. R. Waterham, B. C. Hamel

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First Report of Diabetes Phenotype due to a Loss-of-Function ABCC8 Mutation Previously Known to Cause Congenital Hyperinsulinism by Theocharis Koufakis, Amalia Sertedaki, Elizabeth-Barbara Tatsi, Christina-Maria Trakatelli, Spyridon N. Karras, Eleni Manthou, Christina Kanaka-Gantenbein, Kalliopi Kotsa

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The Importance of Biomarkers in the Diagnosis and Follow-Up of the Celiac Disease by Halil Emiroğlu, Anna Carina Ergani, Reyhan Gümüştekin, Esra Kilim, Alaaddin Yorulmaz, Meltem Gümüş

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Ergenlerde Mutluluk Durumu, İyilik Hali, Kendini İfade Edebilme ve Sosyal Medya Bağımlılığının İlişkisi by Nazan Karaoğlu, Emre Ahmet Hatır, Sevinç Emine Çiftçi, Ömer Faruk Akça, Ruhuşen Kutlu

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CaSR gen polimorfizmin koroner arter hastaların patogenezinde rolünün araştırılması by Kürşat Kargün

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Vici Syndrome: A Rare Autosomal Recessive Syndrome with Brain Anomalies, Cardiomyopathy, and Severe Intellectual Disability by R. Curtis Rogers, Bridgette Aufmuth, Stephanie Monesson

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Chromosome 3p Inverted Duplication with Terminal Deletion: Second Postnatal Case Report with Additional Clinical Features by Jacquelyn D. Riley, Catherine M. Stefaniuk, Francine Erenberg, Angelika L. Erwin, Lauren Palange, Caroline Astbury

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A New Case of dic(1;15)(p11;p11) in AML M1: Apropos of a Case and a Review of the Literature by Deniz Gören Şahin, Beyhan Durak, Eren Gündüz, Sevilhan Artan, Olga Meltem Akay

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A SMARCA2 Mutation in the First Case Report of Nicolaides-Baraitser Syndrome in Latin America: Genotype-Phenotype Correlation by Ana Isabel Sánchez, Jorge Armando Rojas

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Expanding the BP1-BP2 15q11.2 Microdeletion Phenotype: Tracheoesophageal Fistula and Congenital Cataracts by D. Wong, S. M. Johnson, D. Young, L. Iwamoto, S. Sood, T. P. Slavin

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A Case of 17q21.31 Microduplication and 7q31.33 Microdeletion, Associated with Developmental Delay, Microcephaly, and Mild Dysmorphic Features by Adrian Mc Cormack, Juliet Taylor, Leah Te Weehi, Donald R. Love, Alice M. George

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Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1 by Jessie C. Jacobsen, Emma Glamuzina, Juliet Taylor, Brendan Swan, Shona Handisides, Callum Wilson, Michael Fietz, Tessa van Dijk, Bart Appelhof, Rosamund Hill, Rosemary Marks, Donald R. Love, Stephen P. Robertson, Russell G. Snell, Klaus Lehnert

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Identification of G-quadruplex-forming Sequences in Nucleocapsid Gene of SARS-CoV-2 Variants of Concern: An In Silico Analysis by Saeedeh Ghazaey Zidanloo

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The Role of Dynamic Renal Scintigraphy in Detecting Vesicoureteral Reflux Diagnosed by Voiding Cystourethrogram by İlhan Çiftci, Gonca Kara Gedik, Farise Yılmaz, Fatma Özcan Sıkı, Hasan Önner, Mehmet Sarıkaya

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Postpartum Depression During the Fourth Wave of the Pandemic and Related Factors by Oya Güçlü, Semra Yüksel, Eylül Sucularlı, Furkan Bahadır Alptekin

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Absence of Substantial Copy Number Differences in a Pair of Monozygotic Twins Discordant for Features of Autism Spectrum Disorder by Marina Laplana, José Luis Royo, Anton Aluja, Ricard López, Damiàn Heine-Sunyer, Joan Fibla

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Farber Disease Mimicking Juvenile Idiopathic Arthritis: The First Reported Case in Qatar and Review of the Literature by Amal Al-Naimi, Haneen Toma, Sara G. Hamad, Tawfeg Ben Omran

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