Oxford Index Browse

You are looking at 1-10 of 1,814 items for:

Medicine and Health x Clinical Genetics x clear all

Refine by type

Refine by product

 

Aarskog Syndrome

Roger E. Stevenson, Charles E. Schwartz and R. Curtis Rogers.

in Atlas of X-Linked Intellectual Disability Syndromes

June 2012; p ublished online October 2012 .

Chapter. Subjects: Clinical Genetics. 835 words.

This chapter provides pictures and clinical details of AARSKOG SYNDROME

Go to Oxford Medicine Online »  abstract

The Abdomen and Perineum

William Reardon.

in The Bedside Dysmorphologist

October 2007; p ublished online October 2012 .

Chapter. Subjects: Clinical Genetics; Neonatology. 4168 words.

This chapter covers clinical signs relating to the abdomen and perineum (minor anomalies of the umbilicus, Umbilical Hernia/ Omphalocele, Inguinal Hernia, Small Penis/Micropenis, Ambiguous...

Go to Oxford Medicine Online »  abstract

The Abdomen and Perineum

William Reardon.

in The Bedside Dysmorphologist

October 2015; p ublished online September 2015 .

Chapter. Subjects: Clinical Genetics; Neonatology. 4676 words.

This is a clinical guide to common—and often quite subtle—congenital malformations in clinical exam. Organized by area of the body, each section provides the user with a concise,...

Go to Oxford Medicine Online »  abstract

Abetalipoproteinemia and Hypobetalipoproteinemia

Amanda J. Hooper and John R. Burnett.

in Inherited Metabolic Disease in Adults

July 2016; p ublished online September 2016 .

Chapter. Subjects: Clinical Genetics. 2545 words.

Abetalipoproteinemia and hypobetalipoproteinemia are characterized by marked hypocholesterolemia and are classified depending on the lipid biochemical phenotype, gene involved, and mode of...

Go to Oxford Medicine Online »  abstract

Abidi Syndrome

Roger E. Stevenson, Charles E. Schwartz and R. Curtis Rogers.

in Atlas of X-Linked Intellectual Disability Syndromes

June 2012; p ublished online October 2012 .

Chapter. Subjects: Clinical Genetics. 510 words.

This chapter provides pictures and clinical details of ABIDI SYNDROME

Go to Oxford Medicine Online »  abstract

Abnormalities of CSF Neurotransmitters/Folates

Simon Heales, Simon Pope, Viruna Neergheen and Manju Kurian.

in Inherited Metabolic Disease in Adults

July 2016; p ublished online September 2016 .

Chapter. Subjects: Clinical Genetics. 6253 words.

The term Neurotansmitter disorder, in the area of metabolic disease, focuses particularly on inborn errors affecting monoamine (dopamine & serotonin), pyridoxal phosphate (B6) and folate...

Go to Oxford Medicine Online »  abstract

Absent pulmonary valve syndrome

Martin A. Nørgaard, Nelson Alphonso, Andrew E. Newcomb, Christian P. Brizard and Andrew D. Cochrane.

in European Journal of Cardio-Thoracic Surgery

May 2006; p ublished online May 2006 .

Journal Article. Subjects: Clinical Genetics; Professional Development in Medicine; Cardiothoracic Surgery; Cardiovascular Medicine. 3782 words.

Objective: To identify a large group of patients operated for absent pulmonary valve syndrome (APVS), and describe the outcomes of various subgroups and surgical strategies. Me...

Go to Oxford Journals »  home page

Abundance of BER-related proteins depends on cell proliferation status and the presence of DNA polymerase β

Mizuki Yamamoto, Ryohei Yamamoto, Shigeo Takenaka, Satoshi Matsuyama and Kihei Kubo.

in Journal of Radiation Research

July 2015; p ublished online March 2015 .

Journal Article. Subjects: Clinical Genetics; Molecular Biology and Genetics; Epidemiology; Radiology; Nuclear Chemistry, Photochemistry, and Radiation. 4559 words.

In mammalian cells, murine N-methylpurine DNA glycosylase (MPG) removes bases damaged spontaneously or by chemical agents through the process called base excision repair (BER). In this...

Go to Oxford Journals »  full text: open access

Achondrogenesis Type 1A (Mim 200600)

Jürgen W. Spranger, Paula W. Brill, Gen Nishimura, Andrea Superti-Furga and Sheila Unger.

in Bone Dysplasias

September 2012; p ublished online November 2013 .

Chapter. Subjects: Clinical Genetics; Clinical Radiology. 604 words.

Chapter 51 covers achondrogenesis type 1A (MIM200600), including major clinical findings, radiographic features, and differential diagnoses.

Go to Oxford Medicine Online »  abstract

Achromatopsia-Rod Monochromacy

Susanne Kohl.

in Genetic Diseases of the Eye, Second Edition

January 2012; p ublished online October 2012 .

Chapter. Subjects: Clinical Genetics; Ophthalmology. 6142 words.

Achromatopsia is also referred to as rod monochromacy (or rod monochromatism), complete (or total) color blindness (OMIM 216900, 262300, and 139340) or day blindness (hemeralopia) and is...

Go to Oxford Medicine Online »  abstract