Annals of Human Genetics
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Published By Wiley (Blackwell Publishing)

1469-1809, 0003-4800
Latest Documents Most Cited Documents Contributed Authors Related Sources Related Keywords

Hereditary spastic paraplegia associated with a novel homozygous intronic noncanonical splice site variant in the AP4B1 gene

2021 ◽  
Author(s):  
Clara Gómez‐González ◽  
Cristina Pizarro‐Sánchez ◽  
Carlos Rodríguez‐Antolín ◽  
Ignacio Pascual‐Pascual ◽  
Mar Garcia‐Romero ◽  
...  
Keyword(s):  
Splice Site ◽  
Hereditary Spastic Paraplegia ◽  
Spastic Paraplegia ◽  
Splice Site Variant

Frequency of DPYD gene variants and phenotype inference in a Southern Brazilian population

2021 ◽  
Author(s):  
Mariana Rodrigues Botton ◽  
Marina Hentschke‐Lopes ◽  
Ursula Matte
Keyword(s):  
Brazilian Population ◽  
Gene Variants ◽  
Dpyd Gene

Pseudodominant Alport syndrome caused by pathogenic homozygous and compound heterozygous COL4A3 splicing variants

2021 ◽  
Author(s):  
Maha Mohamed ◽  
James Tellez ◽  
Carsten Bergmann ◽  
Daniel P. Gale ◽  
John A. Sayer ◽  
...  
Keyword(s):  
Alport Syndrome ◽  
Compound Heterozygous ◽  
Splicing Variants

Further evidence of muscle involvement in neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy

2021 ◽  
Author(s):  
Purvi Majethia ◽  
Michelle C. Do Rosario ◽  
Parneet Kaur ◽  
Karanvir ◽  
Raagul Shankar ◽  
...  
Keyword(s):  
Brain Atrophy ◽  
Neurodevelopmental Disorder ◽  
Muscle Involvement

Hematological and molecular analysis of patients with G6PD deficiency revealed coexistent hereditary spherocytosis and alpha thalassemia

2021 ◽  
Author(s):  
Lourdes del Carmen Rizo‐delaTorre ◽  
Isis Mariela Herrera‐Tirado ◽  
Rubiceli Hernández‐Peña ◽  
Bertha Ibarra‐Cortés ◽  
Francisco Javier Perea‐Díaz
Keyword(s):  
Molecular Analysis ◽  
G6pd Deficiency ◽  
Hereditary Spherocytosis ◽  
Alpha Thalassemia
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