Results 141 to 150 of about 12,560 (202)

Fetal Macrocephaly: Prenatal Findings and Follow-Up in Cases With High Risk for Abnormal Outcome. [PDF]

Prenat Diagn
Miremberg H, Malinger G, Kidron D, Levy M, Yaron Y, Shohat M, Goldstein R, Ben Sira L, Brusilov M, Birnbaum R, Haratz KK.   +10 more
europepmc   +1 more source

Exploring the clinical and genetic spectrum of Steel syndrome: two case reports and review of the literature. [PDF]

Front Med (Lausanne)
Gorodilova D, Kenis V, Rustamov K, Akimova D, Skoblov M, Merkuryeva E, Morgul A, Grigorieva A, Andreeva L, Zabnenkova V, Bulakh M, Chistol D, Raimkhodjaeva N, Lavrov A, Hegay T, Aripova T, Kutsev S, Markova T.   +17 more
europepmc   +1 more source

Normative data for interorbital distance in a paediatric Caucasian population. [PDF]

Surg Radiol Anat
de Laclause MP, Morel B, Laure B, Morice A.   +3 more
europepmc   +1 more source

Autoimmune thyroid disease and pituitary adenoma in a female patient with 18p deletion syndrome: a case report and review of the literature. [PDF]

BMC Endocr Disord
Ye J, Shu Y, Wang M, Luo H, Liang W, Lu Q, Mei W, Deng J.   +7 more
europepmc   +1 more source

Goldberg-Shprintzen Megacolon Syndrome Diagnosed in the Neonatal Period: A Case Report With Molecular Confirmation. [PDF]

Cureus
Papaioannou E, Anastasiadou E.
europepmc   +1 more source

Two Cases of Hypertelorism [PDF]

Proceedings of the Royal Society of Medicine, 1927
openaire   +2 more sources

Expanding the repertoire of loss-of-function variants in HACE1 causing complex spastic paraplegia: literature review and recommendations on clinical management. [PDF]

Hum Genomics
Yousaf H, Ali S, Moulvi AY, Khalid LB, Javed I, Ghumman RZ, Colson C, Ibrahim S, Zia S, Khan MM, Brunelle P, Trujillo-Quintero JP, Ruiz A, Kirmani S, Houlden H, Toft M, Fatima A, Iqbal Z.   +17 more
europepmc   +1 more source

Comprehensive Clinical, Diagnostic, and In Silico Assessment of a Novel 1p36.33p36.32 Copy Number Variant. [PDF]

J Cell Mol Med
Eslahi A, Kahaei MS, Shirvan BB, Alerasool M, Tabarestani S, Rezaie R, Hashemi N, Akhondian J, Arabi M, Ebrahimzadeh F, Toosi MB, Mojarrad M.   +11 more
europepmc   +1 more source

Concurrent 12p trisomy and 4q34.2-q35.2 deletion detected by WES-CNV: Case report. [PDF]

Medicine (Baltimore)
Sun X, Lin S, Wang W, Qi Y, Jiang K.
europepmc   +1 more source