Results 171 to 180 of about 241,099 (281)

Helicase-inactivating BRIP1 mutation yields Fanconi anemia with microcephaly and other congenital abnormalities. [PDF]

Cold Spring Harb Mol Case Stud, 2020
Kamal L, Pierce SB, Canavati C, Rayyan AA, Jaraysa T, Lobel O, Lolas S, Norquist BM, Rabie G, Zahdeh F, Levy-Lahad E, King MC, Kanaan MN.   +12 more
europepmc   +1 more source

Clinico-Radiologic Perspective of a Case of Hemifacial Microsomia [PDF]

Journal of Clinical and Diagnostic Research, 2016
Mandakini Subhash Mandale, Jyoti Dilip Bhavthankar, Jayanti Govind Humbe, Pritam Kumar Mankapure   +3 more
doaj   +1 more source

Congenital Abnormalities of the Breast

Congenital abnormalities affecting the breast and chest wall present challenges in aesthetics and functionality, requiring a multidisciplinary approach.
Haci, H.
core  

From Interferon Signature to the Clinical Landscape: Type I Interferonopathies

Arthritis &Rheumatology, Accepted Article.
Background Type I interferonopathies are heterogeneous diseases driven by dysregulated IFN‐I signaling. Diagnosis is challenging due to clinical/molecular variability and the need for IFN‐I quantification. Objective To characterize the clinical, immunological, genetic, molecular profiles of patients with suspected enhanced IFN‐I signaling, and assess ...
Ismail Yaz, Seza Ozen, Hacer N. Bildik, Canberk Ipsir, Dilara Unal, Saliha Esenboga, Begum Cicek, Mehmet E. Seker, Fatima Aerts‐Kaya, Seher Sener, Mehmet O. Erkan, Hanife Avci, Deniz Cagdas, Ilhan Tezcan   +13 more
wiley   +1 more source

Parachute-Like Mitral Valve and Associated Congenital Abnormalities Diagnosed With Multimodality Imaging. [PDF]

CASE (Phila)
Chen Y, Nagpal P, Hillerson DB.
europepmc   +1 more source

Prenatal structural brain abnormalities in fetuses with congenital heart diseases confirmed with post-mortem examinations: a retrospective study in cases of fetal death

reservedCongenital heart diseases (CHD) are gross structural abnormalities of the heart or intrathoracic great vessels that are actually or potentially of functional significance.
GRINZA, MARTA
core  

Essential embryology for the Canadian pathologists’ assistant

Anatomical Sciences Education, EarlyView.
Abstract Pathologists' assistants (PAs) are pivotal in healthcare, conducting autopsies and examining tissues under a pathologist's guidance. Embryology knowledge is crucial for PAs to accurately assess anomalies and identify pathologies. Yet, it is often overlooked in academic PA training programs.
Samantha H. Nacci, William Tsui, Fang‐I Lu, Avrum I. Gotlieb, Danielle C. Bentley   +4 more
wiley   +1 more source

Double congenital abnormalities of left anterior descending artery: a technical modification for closing wide neck of aneurysm and fistulae-a case report. [PDF]

Eur Heart J Case Rep
Çetin Güvenç R, Al Arfaj AA, Doğan D, Özer N.   +3 more
europepmc   +1 more source

Pregnancy environment, and not preconception, leads to fetal growth restriction and congenital abnormalities associated with diabetes. [PDF]

Sci Rep, 2020
Tsai PS, Yamauchi Y, Riel JM, Ward MA.
europepmc   +1 more source

Congenital Abnormalities Associated with Vitamin E Malnutrition

, 1952
Congenital abnormalities are known to occur occasionally in man and farm livestock, and frequently in laboratory animals subjected to certain types of experimentation.
Thomas, Byron H., Cheng, Dorothy Wei
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