Results 161 to 170 of about 7,007 (202)

Optical genome mapping identifies rare structural variants in neural tube defects. [PDF]

Genome Res
Sahajpal NS, Dean J, Hilton B, Fee T, Skinner C, Hastie A, DuPont BR, Chaubey A, Friez MJ, Stevenson RE.   +9 more
europepmc   +1 more source

Sirenomelia or mermaid syndrome with a cleft lip in a Tanzanian newborn: a case report. [PDF]

J Med Case Rep
Wilfred ZI, Magitta NF.
europepmc   +1 more source

1q21.1 Duplication Syndrome and Anorectal Malformations: A Literature Review and a New Case. [PDF]

Curr Issues Mol Biol
Minelli M, Palka Bayard de Volo C, Alfonsi M, Capanna S, Morizio E, Miscia ME, Lisi G, Stuppia L, Gatta V.   +8 more
europepmc   +1 more source

Deficiency of the Fanconi anemia core complex protein FAAP100 results in severe Fanconi anemia. [PDF]

J Clin Invest
Harrison BA, Mizrahi-Powell E, Pappas J, Thomas K, Vasishta S, Hebbar S, Shukla A, Nayak SS, Truong TK, Woroch A, Kharbutli Y, Gelb BD, Mintz CS, Evrony GD, Smogorzewska A.   +14 more
europepmc   +1 more source

Unusual causes of perineal trauma in paediatric patients: lessons learned from a high-volume colorectal clinic in a low-and-middle-income country. [PDF]

Pediatr Surg Int
Palmisani F, Teko K, Bebington C, Brisighelli G.   +3 more
europepmc   +1 more source

A New Diagnosis of Ulcerative Colitis on a Background of Diversion Colitis Following Hartmann's Procedure for Perforated Diverticula. [PDF]

Cureus
Kumaravel Kanagavelu AS, Khani A, Boloorsazmashadi R, Khan R, Langmead L, Mehta S.   +5 more
europepmc   +1 more source

Anovestibular fistula with imperforate anus in two adults

Annals of Saudi Medicine, 2008
Terzi Alpaslan, Coskun Ali, Yildiz Fahrettin, Coban Sacit, Akinci Omer   +4 more
doaj  

Isolated hydrometrocolpos and cloacal malformation: can we prenatally distinguish them?-A case report and literature review. [PDF]

Arch Gynecol Obstet
Long M, Fu K, Ruan J.
europepmc   +1 more source

Lipid apheresis in the management of severe hypertriglyceridaemia in an adolescent girl with global developmental delay. [PDF]

BMJ Case Rep
Al-Agailat L, Guertin S, Littlejohn E.
europepmc   +1 more source

OIES complex diagnosed by in utero ultrasound a case report. [PDF]

Int J Surg Case Rep
Cherkaoui A, Tossi S, Gotni A, Assal A, Jalal M, Lamrissi A.   +5 more
europepmc   +1 more source