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  1. Pubblicazioni

JOURNAL OF MEDICAL GENETICS

Rivista
Codice:
E092698
ISSN:
0022-2593
  • Dati Generali

Dati Generali

Pubblicazioni (14)

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Association of partial AZFc region deletions with spermatogenic impairment and male infertility.
Articolo
Case report: a subject with a mutation in the ATG start codon of L-ferritin has no hematological or neurological symptoms
Articolo
Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis.
Articolo
Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients.
Articolo
EXPANSION OF THE MYOTONIC DYSTROPHY GENE IN ITALIAN AND SPANISH PATIENTS
Articolo
Homozygosity mapping of a gene for arterial tortuosity syndrome to chromosome 20q13
Articolo
Localisation of the Y chromosome stature gene to a 700 kb interval in close proximity to the centromere
Articolo
MEIOTIC DRIVE AT THE MYOTONIC DYSTROPHY LOCUS.
Articolo
Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Loken syndrome.
Articolo
NPHP1 gene deletion is a rare cause of Joubert sindrome related disorders
Articolo
Rapid prenatal diagnosis of myotonic dystrophy in the second trimester using polymerase chain reaction
Articolo
The human Y chromosome's azoospermia factor b (AZFb) region: sequence, structure, and deletion analysis in infertile men
Articolo
Y-CHROMOSOME HAPLOGRUPS AND SUSCEPTIBILITY TO AZOOSPERMIA FACTOR C MICRODELETION IN AN ITALIAN POPULATION
Articolo
Y-chromosome haplogroups and susceptibility to azoospermia factor c microdeletion in an Italian population
Articolo
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