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PubPharm (46)
1
Translocation t(X;Y) characterized by chromosomal microarray and FISH in a phenotypic male with Microphthalmia and linear skin defects
enthalten in:
Clinical dysmorphology
| 2024
von
Singh, K.
|
Lall, M.
|
Agarwal, S.
| +1
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2
A Rare Case of Mosaic 3pter and 5pter Deletion-Duplication with Autism Spectrum Disorder and Dyskinesia
enthalten in:
Case reports in genetics
| 2023
von
Bajracharya, L.
|
Lall, M.
|
Bijarnia-Mahay, S.
| +7
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3
Hypomelanosis of Ito
enthalten in:
Indian journal of pediatrics
| 2022
von
Arora, V.
|
Tandon, R.
|
Puri, R.
| +3
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4
Erratum to: Clinical and Genetic Profile of Children With Short Stature Presenting to a Genetic Clinic in Northern India
enthalten in:
Indian pediatrics
| 2022
von
Singh, K.
|
Puri, R.
|
Bijarnia-Mahay, S.
| +7
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5
Erratum to: Clinical and Genetic Profile of Children With Short Stature Presenting to a Genetic Clinic in Northern India
enthalten in:
Indian pediatrics
| 2022
von
Singh, K.
|
Puri, R.
|
Bijarnia-Mahay, S.
| +7
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6
Hypomelanosis of Ito
enthalten in:
Indian journal of pediatrics
| 2022
von
Arora, V.
|
Tandon, R.
|
Puri, R.
| +3
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7
Hypomelanosis of Ito
enthalten in:
Indian journal of pediatrics
| 2022
von
Arora, V.
|
Tandon, R.
|
Puri, R.
| +3
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8
Clinical and Genetic Profile of Children With Short Stature Presenting to a Genetic Clinic in Northern India
enthalten in:
Indian pediatrics
| 2022
von
Singh, K.
|
Puri, R.
|
Bijarnia-Mahay, S.
| +7
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9
Prenatal phenotypic spectrum of full trisomy 18 in an Indian cohort
enthalten in:
American journal of medical genetics. Part A
| 2022
von
Sandal, S.
|
Mahay, S.
|
Dimri Gupta, N.
| +3
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10
Clinical and Genetic Profile of Children With Short Stature Presenting to a Genetic Clinic in Northern India
enthalten in:
Indian pediatrics
| 2022
von
Singh, K.
|
Puri, R.
|
Bijarnia-Mahay, S.
| +7
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Journal of fetal medicine
5
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Indian journal of pediatrics
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American journal of medical genetics. Part A
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Flow cytometric immunophenotyping
5
Prenatal
4
CNV
4
Microarray
4
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4
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4
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3
Acute leukemia of ambiguous lineage
3
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3
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3
Ichthyosis with confetti, Klippel-Trenaunay syn...
3
Incontinentia pigmenti achromians mosaic
3
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Pallister-Killian mosaic syndrome
3
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2
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2
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2
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Erscheinungszeitraum
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2020-
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2010-2019
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