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Leader
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00000nz a2200037n 45 0 |
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001
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WKP|Q79252592
(VIAF cluster)
(Authority/Source Record)
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003
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WKP |
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005
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20241221010740.0 |
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(WKP)Q79252592
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0000-0002-5562-6276
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orcid
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(OCoLC)Q79252592
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100
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0 |
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‡a
Emma M Clement
‡c
researcher
‡9
en
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375
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‡a
2
‡2
iso5218
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400
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0 |
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Emma M Clement
‡c
wetenschapper
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nl
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670
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‡a
Author's An example of the utility of genomic analysis for fast and accurate clinical diagnosis of complex rare phenotypes.
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670
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‡a
Author's An RYR1 mutation associated with malignant hyperthermia is also associated with bleeding abnormalities.
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670
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‡a
Author's Differential diagnosis of congenital muscular dystrophies
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670
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‡a
Author's Dystroglycanopathies: coming into focus
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670
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‡a
Author's Exclusion of WWP1 mutations in a cohort of dystroglycanopathy patients.
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670
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‡a
Author's Genotype–phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations
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670
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‡a
Author's Muscle magnetic resonance imaging in congenital myopathies due to ryanodine receptor type 1 gene mutations
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670
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‡a
Author's Natural history of Ullrich congenital muscular dystrophy.
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670
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‡a
Author's Persistent hyperinsulinaemic hypoglycaemia in children with Rubinstein-Taybi syndrome
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670
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‡a
Author's PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics
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670
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‡a
Author's Rapid Paediatric Sequencing
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670
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Author's Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill children
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670
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‡a
Author's Re-Examining the Cochlea in Branchio-Oto-Renal Syndrome: Genotype-Phenotype Correlation
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670
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‡a
Author's Relative frequency of congenital muscular dystrophy subtypes: analysis of the UK diagnostic service 2001-2008.
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670
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Author's Rubinstein-Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrum
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670
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Author's Sotos Syndrome Presenting with Neonatal Hyperinsulinaemic Hypoglycaemia, Extensive Thrombosis, and Multisystem Involvement
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670
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Author's Subtle Malformation of the Cochlear Apex and Genetic Abnormalities: Beyond the “Thorny” Cochlea
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670
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Author's The Cochlea in Branchio-Oto-Renal Syndrome: An Objective Method for the Diagnosis of Offset Cochlear Turns
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909
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‡a
(orcid) 0000000255626276
‡9
1
|
|
919
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‡a
cochleainbranchiootorenalsyndromeanobjectivemethodforthediagnosisofoffsetcochlearturns
‡A
The Cochlea in Branchio-Oto-Renal Syndrome: An Objective Method for the Diagnosis of Offset Cochlear Turns
‡9
1
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919
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‡a
dystroglycanopathiescomingintofocus
‡A
Dystroglycanopathies: coming into focus
‡9
1
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919
|
|
|
‡a
exclusionofwwp1mutationsinacohortofdystroglycanopathypatients
‡A
Exclusion of WWP1 mutations in a cohort of dystroglycanopathy patients.
‡9
1
|
|
919
|
|
|
‡a
genotypephenotypecorrelationinalargepopulationofmusculardystrophypatientswithlama2mutations
‡A
Genotype–phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations
‡9
1
|
|
919
|
|
|
‡a
musclemagneticresonanceimagingincongenitalmyopathiesduetoryanodinereceptortype1genemutations
‡A
Muscle magnetic resonance imaging in congenital myopathies due to ryanodine receptor type 1 gene mutations
‡9
1
|
|
919
|
|
|
‡a
naturalhistoryofullrichcongenitalmusculardystrophy
‡A
Natural history of Ullrich congenital muscular dystrophy.
‡9
1
|
|
919
|
|
|
‡a
persistenthyperinsulinaemichypoglycaemiainchildrenwithrubinsteintaybisyndrome
‡A
Persistent hyperinsulinaemic hypoglycaemia in children with Rubinstein-Taybi syndrome
‡9
1
|
|
919
|
|
|
‡a
pigtcdgadisorderoftheglycosylphosphatidylinositolanchordescriptionof13novelpatientsandexpansionoftheclinicalcharacteristics
‡A
PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics
‡9
1
|
|
919
|
|
|
‡a
rapidpaediatricsequencing
‡A
Rapid Paediatric Sequencing
‡9
1
|
|
919
|
|
|
‡a
rapidpaediatricsequencingrapscomprehensivereallifeworkflowforrapiddiagnosisofcriticallyillchildren
‡A
Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill children
‡9
1
|
|
919
|
|
|
‡a
reexaminingthecochleainbranchiootorenalsyndromegenotypephenotypecorrelation
‡A
Re-Examining the Cochlea in Branchio-Oto-Renal Syndrome: Genotype-Phenotype Correlation
‡9
1
|
|
919
|
|
|
‡a
relativefrequencyofcongenitalmusculardystrophysubtypesanalysisoftheukdiagnosticservice2001
‡A
Relative frequency of congenital muscular dystrophy subtypes: analysis of the UK diagnostic service 2001-2008.
‡9
1
|
|
919
|
|
|
‡a
rubinsteintaybisyndrometype2reportof9newcasesthatextendthephenotypicandgenotypicspectrum
‡A
Rubinstein-Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrum
‡9
1
|
|
919
|
|
|
‡a
sotossyndromepresentingwithneonatalhyperinsulinaemichypoglycaemiaextensivethrombosisandmultisysteminvolvement
‡A
Sotos Syndrome Presenting with Neonatal Hyperinsulinaemic Hypoglycaemia, Extensive Thrombosis, and Multisystem Involvement
‡9
1
|
|
919
|
|
|
‡a
subtlemalformationofthecochlearapexandgeneticabnormalitiesbeyondthethornycochlea
‡A
Subtle Malformation of the Cochlear Apex and Genetic Abnormalities: Beyond the “Thorny” Cochlea
‡9
1
|
|
919
|
|
|
‡a
differentialdiagnosisofcongenitalmusculardystrophies
‡A
Differential diagnosis of congenital muscular dystrophies
‡9
1
|
|
919
|
|
|
‡a
ryr1mutationassociatedwithmalignanthyperthermiaisalsoassociatedwithbleedingabnormalities
‡A
An RYR1 mutation associated with malignant hyperthermia is also associated with bleeding abnormalities.
‡9
1
|
|
919
|
|
|
‡a
exampleoftheutilityofgenomicanalysisforfastandaccurateclinicaldiagnosisofcomplexrarephenotypes
‡A
An example of the utility of genomic analysis for fast and accurate clinical diagnosis of complex rare phenotypes.
‡9
1
|
|
943
|
|
|
‡a
200x
‡A
2008
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1
|
|
946
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‡a
a
‡9
1
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996
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‡2
SUDOC|223351210
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996
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SUDOC|263654850
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996
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RERO|A003110903
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996
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RERO|A003110901
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996
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BIBSYS|99025245
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996
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LC|n 98030490
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996
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SUDOC|279360541
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996
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SUDOC|119729970
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996
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BNF|16577695
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996
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LC|n 92075944
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996
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DNB|120724146
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996
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NTA|429343086
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996
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RERO|A006597900
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996
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BIBSYS|5099109
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996
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ISNI|0000000032209459
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996
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DNB|127344349
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996
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DNB|133402347
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996
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SUDOC|273044176
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996
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LC|no2002100626
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996
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ISNI|0000000034431934
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996
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J9U|987011289660005171
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996
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BNF|14402704
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997
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‡a
0 0 lived 0 0
‡9
1
|
