<p>The number of carriers and non-carriers in both affected and cognitively normal family members is displayed, along with the average AAO for cases and average ALA for controls. The first reference for each variant is also provided.</p
Genetic epidemiology is an emerging field with diverse interests, one that represents an important i...
OBJECTIVE: To classify familial amyotrophic lateral sclerosis (FALS) on the base of family history, ...
<p>These graphs compare the number of variants per person at different stages of the literature scre...
<p>The number of families with different numbers of affected individuals is shown. More than 50% of ...
International audienceAlagille syndrome (AGS) is a well defined genetic disorder characterised by fi...
Plot over number of shared candidate disease-causing variants when successively adding up to 11 affe...
<p>Below the individuals, genotypes are presented for each change segregating with RP. Index patient...
<p>Key: Heterozygous, Het; Homozygous, Homo; Familial, FM; Sporadic, SP; Not available, n.a.</p><p>*...
The ability to perform whole-exome and, increasingly, whole-genome sequencing on large numbers of in...
<p>For each family, the phenotype, inheritance model, the altered gene, the identified mutation, the...
<p><b>A, B</b>) Segregation of (<b>A</b>) <i>LIPG</i> L130F-FS and (<b>B</b>) <i>GALNT2</i> D314A wi...
<p>We genotyped 43 index-patients. Of these 18 familial and 6 sporadic cases carried (likely) pathog...
<p>Mutation carriers and non-carriers are indicated with red and green squares, respectively. Diagno...
Studies documenting increased risk of developing autoimmune diseases (ADs) have shown that these con...
Despite genetics being accepted as the primary cause of familial aggregation for most diseases, it i...
Genetic epidemiology is an emerging field with diverse interests, one that represents an important i...
OBJECTIVE: To classify familial amyotrophic lateral sclerosis (FALS) on the base of family history, ...
<p>These graphs compare the number of variants per person at different stages of the literature scre...
<p>The number of families with different numbers of affected individuals is shown. More than 50% of ...
International audienceAlagille syndrome (AGS) is a well defined genetic disorder characterised by fi...
Plot over number of shared candidate disease-causing variants when successively adding up to 11 affe...
<p>Below the individuals, genotypes are presented for each change segregating with RP. Index patient...
<p>Key: Heterozygous, Het; Homozygous, Homo; Familial, FM; Sporadic, SP; Not available, n.a.</p><p>*...
The ability to perform whole-exome and, increasingly, whole-genome sequencing on large numbers of in...
<p>For each family, the phenotype, inheritance model, the altered gene, the identified mutation, the...
<p><b>A, B</b>) Segregation of (<b>A</b>) <i>LIPG</i> L130F-FS and (<b>B</b>) <i>GALNT2</i> D314A wi...
<p>We genotyped 43 index-patients. Of these 18 familial and 6 sporadic cases carried (likely) pathog...
<p>Mutation carriers and non-carriers are indicated with red and green squares, respectively. Diagno...
Studies documenting increased risk of developing autoimmune diseases (ADs) have shown that these con...
Despite genetics being accepted as the primary cause of familial aggregation for most diseases, it i...
Genetic epidemiology is an emerging field with diverse interests, one that represents an important i...
OBJECTIVE: To classify familial amyotrophic lateral sclerosis (FALS) on the base of family history, ...
<p>These graphs compare the number of variants per person at different stages of the literature scre...