Results 131 to 140 of about 15,989 (162)

Identification of novel <i>FOXP1</i> variants in four unrelated patients with intellectual disability and speech impairment. [PDF]

Front Neurol
Xiang J, Mao J, Zhang Q, Meng Q.
europepmc   +1 more source

Gorlin-Goltz syndrome: Multidisciplinary approach for early diagnosis of rare disease for better patient outcome. [PDF]

Radiol Case Rep
Alemayehu A, Fantahun S, Garoma G, Amare M, Birhanu F.   +4 more
europepmc   +1 more source

Paediatric Retinal Detachment in a Patient With Coexistent Stickler and Noonan Syndromes: The Importance of a Multidisciplinary Approach. [PDF]

Cureus
Bakr Y, Helmy Y, Qin C, Kalogeropoulos D, Latasiewicz M.   +4 more
europepmc   +1 more source

Modeling the long-range effect of an inversion downstream of EFNB1 concludes a 43-year molecular diagnostic odyssey for craniofrontonasal syndrome. [PDF]

Eur J Hum Genet
Li D, Matsuoka LS, Donoghue S, Hou C, Strong A, McDonald-McGinn DM, Whitaker L, Taylor J, Bhoj EJ, Hakonarson H, Zackai EH.   +10 more
europepmc   +1 more source

Hereditary Spastic Paraplegy Associated with the AP4S1 Gene: A Case Series Highlighting Diagnostic Pitfalls and Phenotypic Variability. [PDF]

Mol Syndromol
Günay Ç, Gazeteci Tekin H.
europepmc   +1 more source

Vanishing Bones and Stubborn Joints: Unravelling the Enigma of Multicentric Osteolysis, Nodulosis, and Arthropathy Syndrome. [PDF]

Cureus
Sahu RK, Maurya M, Sahoo M, Dhakad U, Kumar P.   +4 more
europepmc   +1 more source

Congenital disorder of deglycosylation 2. Report of a novel <i>MAN2C1</i> pathogenic variant and additional phenotypic implications. [PDF]

Mol Genet Metab Rep
Aguirre-Guillen RL, Arredondo-Navarro LÁ, Hernández-Rodríguez MF, Eduardo MT, Del Rosario CPM, Arce-Lozoya MA, Ochoa-Padilla E, Rodríguez-Machuca VU.   +7 more
europepmc   +1 more source

Unexpected severe hypercalcemia in a 6-year-old child with hypoparathyroidism and feeding difficulties. [PDF]

JCEM Case Rep
Torchinsky MY, Miller MD.
europepmc   +1 more source

A Child With Cleidocranial Dysplasia Presenting With Seizure Disorder. [PDF]

Cureus
Mohakud S, Satapathy A, Patel S, Sarangi PK, S P, Mohanty D.   +5 more
europepmc   +1 more source

A case with a de novo chromosome 8.9 Mb 11pter duplication and 6.4 Mb 11qter deletion derived from a father with a normal karyotype. [PDF]

Clin Dysmorphol
Pakhathirathien P, Vaseenon H, Thammachote W, Songpatanasilp C, Sinpitak P, Tocharoentanaphol C, Jinawath N, Wattanasirichaigoon D.   +7 more
europepmc   +1 more source